Allele Registry

Canonical Allele Identifier: PA916036455

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201541

ClinVar RCV:

RCV000188898

RCV000559138

RCV001253284

ClinVar Variation:

206788

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Val947Met	CA317315 NM_001353948.2:c.2839G>A