Allele Registry

Canonical Allele Identifier: PA645500449

Gene: COL5A2 HGNC NCBI

ClinVar RCV:

RCV000423732

RCV002230033

RCV003447528

RCV003760329

ClinVar Variation:

382848

2900626

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Gly1125Arg	CA2022009 NM_000393.5:c.3373G>A CA349861090 NM_000393.5:c.3373G>C