Allele Registry

Canonical Allele Identifier: PA916053680

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000285182

RCV001855167

ClinVar Variation:

286169

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg969Trp	CA2188823 NM_057166.5:c.2905C>T