Canonical Allele Identifier: PA2573066824
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_001164100.1:p.Thr2050Ser
CA388880306
NM_001170629.2:c.6149C>G
CA388880310
NM_001170629.2:c.6148A>T