Allele Registry

Canonical Allele Identifier: PA2830148730

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000263531

RCV001312761

ClinVar Variation:

283237

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg157Cys	CA2189712 NM_057167.4:c.469C>T