Allele Registry

Canonical Allele Identifier: PA2830146598

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000202790

RCV000539163

RCV001083049

RCV004553105

ClinVar Variation:

218630

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Val1130Ile	CA248984 NM_057165.5:c.3388G>A