Allele Registry

Canonical Allele Identifier: PA916036931

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000494294

RCV002527098

ClinVar Variation:

430088

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Leu853Pro	CA349069782 NM_001353961.2:c.2558T>C