Allele Registry

Canonical Allele Identifier: PA346260

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV000157152

RCV000356709

RCV001139304

RCV001569254

RCV002229381

RCV002277314

RCV002313005

ClinVar Variation:

180305

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Asp1265Gly	CA346259 NM_000393.5:c.3794A>G