Allele Registry

Canonical Allele Identifier: PA916036381

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413156

RCV003588626

RCV003992286

ClinVar Variation:

372741

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Glu788Lys	CA16042443 NM_001353948.2:c.2362G>A