Allele Registry

Canonical Allele Identifier: PA916036992

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000479372

ClinVar Variation:

420677

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Pro945Ser	CA16617281 NM_001353961.2:c.2833C>T