Canonical Allele Identifier: PA2826067339
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2230539
ClinVar RCV Id: RCV002717650

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001164100.1:p.Lys1007Asn
CA388903246
NM_001170629.2:c.3021G>T
CA388903247
NM_001170629.2:c.3021G>C