Allele Registry

Canonical Allele Identifier: PA2830145207

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

172218

ClinVar RCV:

RCV000371027

RCV000727373

RCV000804572

ClinVar Variation:

162554

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Ala362Thr	CA295323 NM_057164.5:c.1084G>A