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.Arg1754Ser	CA388880410 NM_020920.4:c.5262G>T CA388880411 NM_020920.4:c.5262G>C