Allele Registry

Canonical Allele Identifier: PA322473

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV000198000

RCV003593935

ClinVar Variation:

213096

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Gly498Ser	CA322472 NM_000393.5:c.1492G>A