Allele Registry

Canonical Allele Identifier: PA645455530

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

269718

ClinVar RCV:

RCV000293957

RCV000318494

RCV000551776

RCV004547699

ClinVar Variation:

285481

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Lys3006Arg	CA2187381 NM_004369.4:c.9017A>G