Allele Registry

Canonical Allele Identifier: PA916053500

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000349597

RCV002523124

RCV003144224

ClinVar Variation:

335124

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Ala881Thr	CA2189057 NM_057164.5:c.2641G>A