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
ENSP00000382863.2:p.Thr2050Ser	CA388880306 ENST00000399982.6:c.6149C>G CA388880310 ENST00000399982.6:c.6148A>T