Allele Registry

Canonical Allele Identifier: PA2830150864

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000339597

RCV001364006

ClinVar Variation:

284054

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Cys2854Trp	CA2187338 NM_057167.4:c.8562C>G