Canonical Allele Identifier: PA2829936881
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1305204
ClinVar RCV Id: RCV001773914
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065971.2:p.Thr1771Ser
CA388880306
NM_020920.4:c.5312C>G
CA388880310
NM_020920.4:c.5311A>T