Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: COL6A3 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_005246123.1:p.Val2483Leu	CA351191882 XM_005246066.1:c.7447G>T CA351191884 XM_005246066.1:c.7447G>C