Canonical Allele Identifier: PA097769
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17383
ClinVar RCV Id: RCV000018926 RCV000413561 RCV001074673 RCV001197973 RCV001807733 RCV004528123
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Arg565Cys
CA281746
NM_001844.5:c.1693C>T