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
NP_001164100.1:p.Leu990Phe	CA388903491 NM_001170629.2:c.2970G>T CA388903494 NM_001170629.2:c.2970G>C