Allele Registry

Canonical Allele Identifier: PA2827789577

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000494294

RCV002527098

ClinVar Variation:

430088

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Leu1638Pro	CA349069782 NM_001353960.2:c.4913T>C