Allele Registry

Canonical Allele Identifier: PA2830148544

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269718

ClinVar RCV:

RCV000293957

RCV000318494

RCV000551776

RCV004547699

ClinVar Variation:

285481

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Lys2399Arg	CA2187381 NM_057166.5:c.7196A>G