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: CHD8 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_065971.2:p.Leu1796Phe	CA388880146 NM_020920.4:c.5388G>T CA388880149 NM_020920.4:c.5388G>C