Allele Registry

Canonical Allele Identifier: PA321248

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000196835

ClinVar Variation:

212962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265003.1:p.Gly1117Ala	CA321246 NM_001278074.1:c.3350G>C