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: CHD7 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011515858.1:p.Glu2039Asp	CA371323960 XM_011517556.1:c.6117G>C CA371323961 XM_011517556.1:c.6117G>T