Allele Registry

Canonical Allele Identifier: PA2827772034

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180919

RCV003480074

ClinVar Variation:

189965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Leu1828Val	CA303429 NM_001353951.2:c.5482C>G