Allele Registry

Canonical Allele Identifier: PA108293

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059443

RCV000693267

ClinVar Variation:

68568

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Ser1773Phe	CA285015 NM_001165963.4:c.5318C>T