Allele Registry

Canonical Allele Identifier: PA916036589

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188894

RCV000686144

ClinVar Variation:

93640

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Val92Met	CA221572 NM_001353961.2:c.274G>A