Allele Registry

Canonical Allele Identifier: PA2830145201

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV001337257

RCV002546811

ClinVar Variation:

1034521

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Arg361Cys	CA2189434 NM_057164.5:c.1081C>T