Allele Registry

Canonical Allele Identifier: PA645416713

Gene: COL2A1 HGNC NCBI

ClinVar Allele:

325004

ClinVar RCV:

RCV000349799

RCV000397377

RCV000438916

RCV000680493

RCV000893653

ClinVar Variation:

308908

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Gly1246Ser	CA6534653 NM_001844.5:c.3736G>A