Canonical Allele Identifier: PA2829936887
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708777
ClinVar RCV Id: RCV002288061
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065971.2:p.Ser1778Arg
CA388880268
NM_020920.4:c.5334T>G
CA388880269
NM_020920.4:c.5334T>A
CA388880275
NM_020920.4:c.5332A>C