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
ENSP00000496722.1:p.Ser116_Lys305del	CA388884440 ENST00000642518.1:c.347C>G CA388884441 ENST00000642518.1:c.347C>A