ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098300
Gene: COL2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018931
RCV000022482
RCV001377068
ClinVar Variation:
17389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Tyr1391Cys
CA127170
NM_001844.5:c.4172A>G