Allele Registry

Canonical Allele Identifier: PA645416670

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000377732

RCV000988818

RCV003152704

ClinVar Variation:

286275

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Gly1104Glu	CA10605424 NM_001844.5:c.3311G>A