Allele Registry

Canonical Allele Identifier: PA2827758755

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000032605

RCV000794577

ClinVar Variation:

12890

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Leu975Phe	CA281911 NM_001353949.2:c.2923C>T