Allele Registry

Canonical Allele Identifier: PA2830149620

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000396913

RCV001368271

RCV004021271

ClinVar Variation:

289183

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg1329Cys	CA2188856 NM_057167.4:c.3985C>T