Allele Registry

Canonical Allele Identifier: PA2830148964

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000179433

RCV002517751

ClinVar Variation:

198165

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Val444Ile	CA246674 NM_057167.4:c.1330G>A