Allele Registry

Canonical Allele Identifier: PA2830145364

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

275361

ClinVar RCV:

RCV000354464

RCV002518159

ClinVar Variation:

291124

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Ala571Thr	CA2189291 NM_057164.5:c.1711G>A