Allele Registry

Canonical Allele Identifier: PA916036486

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000032605

RCV000794577

ClinVar Variation:

12890

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Leu986Phe	CA281911 NM_001353948.2:c.2956C>T