Allele Registry

Canonical Allele Identifier: PA2830145476

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

177343

ClinVar RCV:

RCV000153097

RCV001087811

ClinVar Variation:

166945

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Arg689His	CA233841 NM_057164.5:c.2066G>A