Allele Registry

Canonical Allele Identifier: PA2827782853

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059494

ClinVar Variation:

68617

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Thr1182Lys	CA285129 NM_001353957.2:c.3545C>A