Allele Registry

Canonical Allele Identifier: PA321247

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000196835

ClinVar Variation:

212962

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Gly1117Ala	CA321246 NM_000093.5:c.3350G>C