Allele Registry

Canonical Allele Identifier: PA202764

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000178213

RCV000355357

RCV000981752

RCV001088802

RCV002516770

RCV004553004

ClinVar Variation:

197235

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala259Thr	CA202762 NM_004369.4:c.775G>A