Allele Registry

Canonical Allele Identifier: PA916053622

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000596949

RCV000791572

ClinVar Variation:

502397

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Arg817His	CA2188959 NM_057166.5:c.2450G>A