Allele Registry

Canonical Allele Identifier: PA645500090

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV000494214

RCV002231162

RCV002272260

RCV002395194

ClinVar Variation:

429323

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Gly471Ala	CA2022712 NM_000393.5:c.1412G>C