Allele Registry

Canonical Allele Identifier: PA916036929

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180874

RCV002515208

ClinVar Variation:

189922

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ser852Phe	CA303314 NM_001353961.2:c.2555C>T