Canonical Allele Identifier: PA658809921
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 520632
ClinVar RCV Id: RCV000622768 RCV002532822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001164100.1:p.Ser2069Leu
CA7090823
NM_001170629.2:c.6206C>T