Allele Registry

Canonical Allele Identifier: PA2827780877

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059443

RCV000693267

ClinVar Variation:

68568

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Ser1761Phe	CA285015 NM_001353955.2:c.5282C>T