Allele Registry

Canonical Allele Identifier: PA2826260662

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187706

ClinVar RCV:

RCV000180919

RCV003480074

ClinVar Variation:

189965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Leu1839Val	CA303429 NM_001202435.3:c.5515C>G