Allele Registry

Canonical Allele Identifier: PA250703

Gene: COL2A1 HGNC NCBI

ClinVar RCV:

RCV000022481

ClinVar Variation:

17388

HGVS (amino-acid)	Matching Registered Transcripts
NP_001835.3:p.Gly516Asp	CA250701 NM_001844.5:c.1547G>A