Allele Registry

Canonical Allele Identifier: PA321732

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000197283

RCV002229072

RCV002277489

RCV002381664

ClinVar Variation:

213023

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265003.1:p.Arg449Trp	CA321730 NM_001278074.1:c.1345C>T