Allele Registry

Canonical Allele Identifier: PA2827763348

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180973

RCV003228910

ClinVar Variation:

190017

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Ala342Ser	CA303563 NM_001353950.2:c.1024G>T