Allele Registry

Canonical Allele Identifier: PA243738

Gene: CHD8 HGNC NCBI

ClinVar RCV:

RCV000177525

RCV002317037

RCV004552994

ClinVar Variation:

196670

HGVS (amino-acid)	Matching Registered Transcripts
NP_001164100.1:p.Glu2029Lys	CA243736 NM_001170629.2:c.6085G>A