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
ENSP00000495070.1:p.Met384Ile
CA388884561
ENST00000643469.1:c.1152G>T
CA388884563
ENST00000643469.1:c.1152G>C
CA388884564
ENST00000643469.1:c.1152G>A