Allele Registry

Canonical Allele Identifier: PA916036586

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000493354

RCV001132320

RCV001132321

RCV001227551

ClinVar Variation:

429403

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Val988Met	CA59787454 NM_001353958.2:c.2962G>A