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
ENSP00000406288.3:p.Val1752Leu	CA388880426 ENST00000430710.8:c.5254G>T CA388880427 ENST00000430710.8:c.5254G>C