Allele Registry

Canonical Allele Identifier: PA2830146955

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000354464

RCV002518159

ClinVar Variation:

291124

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala371Thr	CA2189291 NM_057166.5:c.1111G>A