Allele Registry

Canonical Allele Identifier: PA2830146034

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000377726

RCV000997706

RCV001865214

ClinVar Variation:

335137

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Val460Ile	CA2189498 NM_057165.5:c.1378G>A