Allele Registry

Canonical Allele Identifier: PA916036733

Gene: SCN1A HGNC NCBI

ClinVar Allele:

516559

ClinVar RCV:

RCV000636368

RCV001333849

RCV001731191

RCV003488746

ClinVar Variation:

530487

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ser532Pro	CA349050752 NM_001353961.2:c.1594T>C