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
NP_001303619.1:p.Arg668Ser	CA371307390 NM_001316690.1:c.2004A>C CA371307391 NM_001316690.1:c.2004A>T