Allele Registry

Canonical Allele Identifier: PA2573062485

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV001757914

RCV001882828

ClinVar Variation:

1303359

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Gly1131Cys	CA2022005 NM_000393.5:c.3391G>T