Allele Registry

Canonical Allele Identifier: PA281747

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000018926

RCV000413561

RCV001074673

RCV001197973

RCV001807733

RCV004528123

ClinVar Variation:

17383

HGVS (amino-acid)	Matching Registered Transcripts
NP_149162.2:p.Arg496Cys	CA281746 NM_033150.3:c.1486C>T