Allele Registry

Canonical Allele Identifier: PA2830149479

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000180594

RCV000224823

RCV000304466

RCV001081946

RCV001358668

RCV004549581

ClinVar Variation:

128819

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Glu1180Lys	CA203744 NM_057167.4:c.3538G>A