Allele Registry

Canonical Allele Identifier: PA2827788547

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180857

RCV000188906

RCV001242378

ClinVar Variation:

189905

967462

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Phe966Leu	CA303267 NM_001353960.2:c.2898T>G CA349060532 NM_001353960.2:c.2898T>A CA349060540 NM_001353960.2:c.2896T>C