CodeSystems URI
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ABCDEFGHIJKLMNOPQRSTUVWXYZ
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IG Location(s) used?
responsible personsource
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http://www.genenames.orgAlready part of IG,
need to be confirmed by the CS
maintaining institution
Bob M ?
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http://www.ensembl.org
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http://www.ncbi.nlm.nih.gov/refseq/
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http://sequenceontology.org
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http://varnomen.hgvs.org/
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http://www.ncbi.nlm.nih.gov/projects/SNP
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http://cancer.sanger.ac.uk/
cancergenome/projects/cosmic
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http://www.lrg-sequence.org
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http://www.omim.org
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http://www.ncbi.nlm.nih.gov/pubmed
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http://www.pharmgkb.org
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http://clinicaltrials.gov
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http://www.ebi.ac.uk/ipd/imgt/hlaBob M.
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http://hl7.org/fhir/sid/chromlocCytogenetic (chromosome) location
<<- Chromloc change to NCBI URI
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https://www.ncbi.nlm.nih.gov/clinvar/varID
clinvarVariantId
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https://www.ncbi.nlm.nih.gov/clinvar/alleleID
clinvarAlleleId
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https://www.ncbi.nlm.nih.gov/clinvar/rcvID
ClinVar RCVhttps://www.ncbi.nlm.nih.gov/clinvar/docs/identifiers/
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http://www.sequenceontology.org/SequenceOnto
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https://glstring.orgGL String Code
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https://hpo.jax.org/Human Phenotype Ontology
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http://disease-ontology.org/
Disease Ontology (NOT CG specific)
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https://www.orpha.net/Orphanet (NOT CG specific)
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https://www.nlm.nih.gov/mesh/MeSH (NOT CG specific)
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https://clinicalgenome.org/ClinGen Allele Registry
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https://www.ddbj.nig.ac.jp/DNA DataBank of Japan (DDBJ)
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https://www.ebi.ac.uk/EMBL
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https://www.ncbi.nlm.nih.gov/genbank/ GenBank
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http://www.insdc.org/PDB/INSDC (GenBank)
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https://pir.georgetown.edu/PIR
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https://www.uniprot.org/help/uniprotkb UniProtKB / Swiss-Prot
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https://www.pharmvar.orgPharmVar
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needs further investigation if it is a CS
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Isn't a CodeSystem
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STAR Allel
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NCBI GEne Code
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