Allele Registry

Canonical Allele Identifier: PA320248

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000195865

RCV001199934

RCV002229061

RCV002336524

ClinVar Variation:

212990

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Ala1589Thr	CA320247 NM_000093.5:c.4765G>A