Allele Registry

Canonical Allele Identifier: PA2827779992

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180969

RCV000442784

ClinVar Variation:

190013

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Ala1261Val	CA303550 NM_001353955.2:c.3782C>T