Allele Registry

Canonical Allele Identifier: PA2830149066

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV001337257

RCV002546811

ClinVar Variation:

1034521

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg562Cys	CA2189434 NM_057167.4:c.1684C>T