Allele Registry

Canonical Allele Identifier: PA322644

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV000198159

RCV002345701

RCV002515353

RCV003967513

ClinVar Variation:

213140

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Gly126Ser	CA322643 NM_000393.5:c.376G>A