Allele Registry

Canonical Allele Identifier: PA2830149916

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

450565

ClinVar RCV:

RCV000531292

RCV003144374

RCV003352926

RCV004553251

ClinVar Variation:

476536

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg1680His	CA2188612 NM_057167.4:c.5039G>A