Canonical Allele Identifier: PA645420377
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 279764
ClinVar RCV Id: RCV000372172 RCV002317796 RCV000876656 RCV004547653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001164100.1:p.Leu291Phe
CA7091873
NM_001170629.2:c.871C>T