Allele Registry

Canonical Allele Identifier: PA2826260564

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059446

RCV000189000

RCV001207693

ClinVar Variation:

68571

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Ala1783Val	CA285024 NM_001202435.3:c.5348C>T