Allele Registry

Canonical Allele Identifier: PA658676863

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000530753

RCV002274066

ClinVar Variation:

476528

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Thr1581Arg	CA351192223 NM_004369.4:c.4742C>G