Allele Registry

Canonical Allele Identifier: PA916036718

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000781833

RCV001054959

ClinVar Variation:

633407

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Pro509Leu	CA349053029 NM_001353961.2:c.1526C>T