Allele Registry

Canonical Allele Identifier: PA2827789028

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180946

RCV001219498

RCV002272155

ClinVar Variation:

189990

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Leu1323Pro	CA303491 NM_001353960.2:c.3968T>C