Allele Registry

Canonical Allele Identifier: PA2826259332

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000493354

RCV001132320

RCV001132321

RCV001227551

ClinVar Variation:

429403

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Val1016Met	CA59787454 NM_001202435.3:c.3046G>A