Allele Registry

Canonical Allele Identifier: PA2827772240

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000593278

RCV000636263

RCV000764281

ClinVar Variation:

498246

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Lys1985Asn	CA59797683 NM_001353951.2:c.5955A>C CA349063033 NM_001353951.2:c.5955A>T