Allele Registry

Canonical Allele Identifier: PA251241

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000176384

RCV000622876

RCV000985160

ClinVar Variation:

195742

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Gly504Ser	CA251240 NM_001844.5:c.1510G>A