Canonical Allele Identifier: PA2829936511
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 589470
ClinVar RCV Id: RCV002316701 RCV003117520
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065971.2:p.Arg1216Cys
CA7091212
NM_020920.4:c.3646C>T