Allele Registry

Canonical Allele Identifier: PA2826259192

Gene: SCN1A HGNC NCBI

ClinVar Allele:

264045

ClinVar RCV:

RCV000302405

RCV001318445

RCV002436095

ClinVar Variation:

280527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.His933Tyr	CA10602812 NM_001202435.3:c.2797C>T