Allele Registry

Canonical Allele Identifier: PA2827771137

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187754

ClinVar RCV:

RCV000180905

ClinVar Variation:

189952

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Ala1328Val	CA303389 NM_001353951.2:c.3983C>T