Allele Registry

Canonical Allele Identifier: PA916036609

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000030432

RCV000079572

RCV000338109

RCV000401331

RCV000860058

RCV001132319

RCV002311528

ClinVar Variation:

36753

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ala253Thr	CA214227 NM_001353961.2:c.757G>A