Canonical Allele Identifier: PA891862156
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 589140
ClinVar RCV Id: RCV002269307 RCV002318080
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001164100.1:p.Val1488Leu
CA7091214
NM_001170629.2:c.4462G>C
CA388893944
NM_001170629.2:c.4462G>T