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
ENSP00000382863.2:p.Gln333His
CA388885187
ENST00000399982.6:c.999G>C
CA388885191
ENST00000399982.6:c.999G>T