Allele Registry

Canonical Allele Identifier: PA325061

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV000200482

RCV002229093

RCV003458353

ClinVar Variation:

213118

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Gly1131Ser	CA325060 NM_000393.5:c.3391G>A