Allele Registry

Canonical Allele Identifier: PA2830099021

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000018931

RCV000022482

RCV001377068

ClinVar Variation:

17389

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Tyr1322Cys	CA127170 NM_033150.3:c.3965A>G