Allele Registry

Canonical Allele Identifier: PA2827750416

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059462

RCV000518904

RCV001854243

ClinVar Variation:

68586

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Tyr388His	CA266098 NM_001353948.2:c.1162T>C