Allele Registry

Canonical Allele Identifier: PA2830145697

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

194396

ClinVar RCV:

RCV000178213

RCV000355357

RCV000981752

RCV001088802

RCV002516770

RCV004553004

ClinVar Variation:

197235

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Ala53Thr	CA202762 NM_057165.5:c.157G>A