Allele Registry

Canonical Allele Identifier: PA2827785587

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180857

RCV000188906

RCV001242378

ClinVar Variation:

189905

967462

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Phe967Leu	CA303267 NM_001353958.2:c.2901T>G CA349060532 NM_001353958.2:c.2901T>A CA349060540 NM_001353958.2:c.2899T>C