Allele Registry

Canonical Allele Identifier: PA107239

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059469

RCV000591357

RCV000798343

ClinVar Variation:

68593

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Arg862Gln	CA285069 NM_001165963.4:c.2585G>A