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
ENSP00000451601.1:p.Leu2075Phe	CA388880146 ENST00000557364.5:c.6225G>T CA388880149 ENST00000557364.5:c.6225G>C