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.Cys752Ser
CA388876686
ENST00000399982.6:c.2255G>C
CA388876692
ENST00000399982.6:c.2254T>A