Allele Registry

Canonical Allele Identifier: PA325019

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000724954

RCV002229466

RCV002277494

RCV002315563

RCV003967512

ClinVar Variation:

213062

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265003.1:p.Ala1636Thr	CA325017 NM_001278074.1:c.4906G>A