Canonical Allele Identifier: PA2580438074
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2230539
ClinVar RCV Id: RCV002717650

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065971.2:p.Lys728Asn
CA388903246
NM_020920.4:c.2184G>T
CA388903247
NM_020920.4:c.2184G>C