Allele Registry

Canonical Allele Identifier: PA303493

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180946

RCV001219498

RCV002272155

ClinVar Variation:

189990

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Leu1341Pro	CA303491 NM_006920.6:c.4022T>C