Allele Registry

Canonical Allele Identifier: PA2830148766

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

267516

ClinVar RCV:

RCV000294221

RCV000308759

RCV000984978

RCV001052126

ClinVar Variation:

283279

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg200Cys	CA2189681 NM_057167.4:c.598C>T