Allele Registry

Canonical Allele Identifier: PA2829936247

Gene: CHD8 HGNC NCBI

ClinVar RCV:

RCV000414983

RCV002524670

ClinVar Variation:

374259

HGVS (amino-acid)	Matching Registered Transcripts
NP_065971.2:p.Arg533Trp	CA16043685 NM_020920.4:c.1597C>T