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_011515857.1:p.Arg2748Ser	CA371307413 XM_011517555.2:c.8244A>C CA371307414 XM_011517555.2:c.8244A>T