Allele Registry

Canonical Allele Identifier: PA243737

Gene: CHD8 HGNC NCBI

ClinVar RCV:

RCV000177525

RCV002317037

RCV004552994

ClinVar Variation:

196670

HGVS (amino-acid)	Matching Registered Transcripts
NP_065971.2:p.Glu1750Lys	CA243736 NM_020920.4:c.5248G>A