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
ENSP00000496730.1:p.Tyr1491_Thr1995del	CA388893924 ENST00000646340.1:c.4473C>G CA388893926 ENST00000646340.1:c.4473C>A