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_005246122.1:p.Val2578Leu	CA351195176 XM_005246065.1:c.7732G>T CA351195178 XM_005246065.1:c.7732G>C