Allele Registry

Canonical Allele Identifier: PA2830145349

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000347536

RCV000689418

ClinVar Variation:

283020

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Arg548His	CA2189307 NM_057164.5:c.1643G>A