Allele Registry

Canonical Allele Identifier: PA2826260340

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000494294

RCV002527098

ClinVar Variation:

430088

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Leu1667Pro	CA349069782 NM_001202435.3:c.5000T>C