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
ENSP00000495240.1:p.[Ser2076_Leu2078delinsArg;Pro2080_Glu2104delinsCysHisHisLeuLeuLeuLeuProHisProHisProAlaProAlaProAlaLeuMetArgValArgMetArgArg;Leu2106delinsArgSer]
CA645571677
ENST00000646647.2:c.6228del