Canonical Allele Identifier: PA658832853
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 560286
ClinVar RCV Id: RCV000678363

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001164100.1:p.Glu2099Lys
CA388879801
NM_001170629.2:c.6295G>A