Allele Registry

Canonical Allele Identifier: PA322729

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000198222

RCV000703884

RCV002225095

ClinVar Variation:

213061

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Thr1631Met	CA322728 NM_000093.5:c.4892C>T