Allele Registry

Canonical Allele Identifier: PA2826258501

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059462

RCV000518904

RCV001854243

ClinVar Variation:

68586

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Tyr388His	CA266098 NM_001202435.3:c.1162T>C