Canonical Allele Identifier: PA2573184769
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1685629
ClinVar RCV Id: RCV002249356
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001164100.1:p.Glu1480Asp
CA388894060
NM_001170629.2:c.4440G>T
CA388894061
NM_001170629.2:c.4440G>C