Allele Registry

Canonical Allele Identifier: PA2827778881

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059463

RCV000180562

RCV002514306

ClinVar Variation:

68587

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Val406Phe	CA248047 NM_001353955.2:c.1216G>T