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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000496730.1:p.Leu992Phe
CA388903491
ENST00000646340.1:c.2976G>T
CA388903494
ENST00000646340.1:c.2976G>C