Allele Registry

Canonical Allele Identifier: PA303494

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180946

RCV001219498

RCV002272155

ClinVar Variation:

189990

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Leu1352Pro	CA303491 NM_001165963.4:c.4055T>C