Allele Registry

Canonical Allele Identifier: PA645420452

Gene: CHD8 HGNC NCBI

ClinVar RCV:

RCV000414983

RCV002524670

ClinVar Variation:

374259

HGVS (amino-acid)	Matching Registered Transcripts
NP_001164100.1:p.Arg812Trp	CA16043685 NM_001170629.2:c.2434C>T