Allele Registry

Canonical Allele Identifier: PA2830147270

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

215253

ClinVar RCV:

RCV000202790

RCV000539163

RCV001083049

RCV004553105

ClinVar Variation:

218630

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val729Ile	CA248984 NM_057166.5:c.2185G>A