Allele Registry

Canonical Allele Identifier: PA916036575

Gene: SCN1A HGNC NCBI

ClinVar Allele:

99565

ClinVar RCV:

RCV000723619

RCV000764282

RCV001080157

RCV001281471

RCV002313760

RCV004542757

ClinVar Variation:

93661

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Pro1984His	CA221611 NM_001353948.2:c.5951C>A