Allele Registry

Canonical Allele Identifier: PA2827778743

Gene: SCN1A HGNC NCBI

ClinVar Allele:

263856

ClinVar RCV:

RCV000258942

ClinVar Variation:

279592

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Ala342Glu	CA10602709 NM_001353955.2:c.1025C>A