Allele Registry

Canonical Allele Identifier: PA303470

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180933

RCV004535159

ClinVar Variation:

189978

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Cys927Phe	CA303467 NM_001165963.4:c.2780G>T