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
ENSP00000496722.1:p.Lys49Asn
CA388885262
ENST00000642518.1:c.147G>T
CA388885264
ENST00000642518.1:c.147G>C