Canonical Allele Identifier: PA2580155705
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1805482
ClinVar RCV Id: RCV002471900

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001164100.1:p.Cys1483Ser
CA388894019
NM_001170629.2:c.4448G>C
CA388894029
NM_001170629.2:c.4447T>A