Allele Registry

Canonical Allele Identifier: PA2830144963

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

194922

ClinVar RCV:

RCV000178890

RCV000267124

RCV000557584

RCV001753582

RCV002298505

RCV004553011

ClinVar Variation:

197761

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Val86Ala	CA203065 NM_057164.5:c.257T>C