Allele Registry

Canonical Allele Identifier: PA203067

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000178890

RCV000267124

RCV000557584

RCV001753582

RCV002298505

RCV004553011

ClinVar Variation:

197761

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Val493Ala	CA203065 NM_004369.4:c.1478T>C