Allele Registry

Canonical Allele Identifier: PA2830146124

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000171340

RCV001243937

ClinVar Variation:

191156

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Arg562Gly	CA236133 NM_057165.5:c.1684C>G