Allele Registry

Canonical Allele Identifier: PA2827783125

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059506

RCV001381481

RCV001719807

RCV003989315

ClinVar Variation:

68628

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Val1338Ile	CA266114 NM_001353957.2:c.4012G>A