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.Val2763Leu	CA351191157 XM_005246065.1:c.8287G>T CA351191159 XM_005246065.1:c.8287G>C