Allele Registry

Canonical Allele Identifier: PA2827780422

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000209885

RCV000494091

RCV000702992

RCV004528267

ClinVar Variation:

69406

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Ser1504Leu	CA357173 NM_001353955.2:c.4511C>T