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.Asp2599Glu	CA351194773 XM_005246065.1:c.7797C>G CA351194775 XM_005246065.1:c.7797C>A