Allele Registry

Canonical Allele Identifier: PA281070

Gene: COL5A1 HGNC NCBI

ClinVar RCV:

RCV000018729

ClinVar Variation:

17189

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Gly1489Glu	CA281069 NM_000093.5:c.4466G>A