Allele Registry

Canonical Allele Identifier: PA303270

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180857

RCV000188906

RCV001242378

ClinVar Variation:

189905

967462

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Phe995Leu	CA303267 NM_001165963.4:c.2985T>G CA349060532 NM_001165963.4:c.2985T>A CA349060540 NM_001165963.4:c.2983T>C