Allele Registry

Canonical Allele Identifier: PA266100

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059462

RCV000518904

RCV001854243

ClinVar Variation:

68586

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Tyr388His	CA266098 NM_006920.6:c.1162T>C