Canonical Allele Identifier: PA2829936909
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 560286
ClinVar RCV Id: RCV000678363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065971.2:p.Glu1820Lys
CA388879801
NM_020920.4:c.5458G>A