Allele Registry

Canonical Allele Identifier: PA2827771387

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180931

RCV002516539

ClinVar Variation:

189976

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Ser1460Phe	CA303462 NM_001353951.2:c.4379C>T