Allele Registry

Canonical Allele Identifier: PA916036738

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636329

RCV001091664

ClinVar Variation:

530454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Leu537Pro	CA349050683 NM_001353961.2:c.1610T>C