Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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Canonical Allele Identifier: PA2826067283

Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 3144208

ClinVar RCV Id: RCV004439081

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001164100.1:p.Phe920Leu	CA388874254 NM_001170629.2:c.2760T>G CA388874255 NM_001170629.2:c.2760T>A CA388874263 NM_001170629.2:c.2758T>C