Canonical Allele Identifier: PA2573066827
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1307636
ClinVar RCV Id: RCV001763172 RCV002538823
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001164100.1:p.Ser2083Phe
CA7090818
NM_001170629.2:c.6248C>T