Allele Registry

Canonical Allele Identifier: PA2830149735

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000018689

RCV000790696

RCV003764588

ClinVar Variation:

17149

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Gly1473Glu	CA239569 NM_057167.4:c.4418G>A