Allele Registry

Canonical Allele Identifier: PA322730

Gene: COL5A1 HGNC NCBI

ClinVar Allele:

210130

ClinVar RCV:

RCV000198222

RCV000703884

RCV002225095

ClinVar Variation:

213061

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265003.1:p.Thr1631Met	CA322728 NM_001278074.1:c.4892C>T