Allele Registry

Canonical Allele Identifier: PA2827785574

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000032605

RCV000794577

ClinVar Variation:

12890

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Leu958Phe	CA281911 NM_001353958.2:c.2872C>T