Allele Registry

Canonical Allele Identifier: PA2827781188

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000723619

RCV000764282

RCV001080157

RCV001281471

RCV002313760

RCV004542757

ClinVar Variation:

93661

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Pro1972His	CA221611 NM_001353955.2:c.5915C>A