Allele Registry

Canonical Allele Identifier: PA321731

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000197283

RCV002229072

RCV002277489

RCV002381664

ClinVar Variation:

213023

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Arg449Trp	CA321730 NM_000093.5:c.1345C>T