Canonical Allele Identifier: PA2580438076
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1712053
ClinVar RCV Id: RCV002293771
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065971.2:p.Gly731Arg
CA388903202
NM_020920.4:c.2191G>C
CA388903204
NM_020920.4:c.2191G>A