Allele Registry

Canonical Allele Identifier: PA916053683

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

450854

ClinVar RCV:

RCV000530753

RCV002274066

ClinVar Variation:

476528

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Thr974Arg	CA351192223 NM_057166.5:c.2921C>G