Allele Registry

Canonical Allele Identifier: PA2827783871

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059445

RCV000188999

RCV001240035

RCV001849308

RCV002468563

RCV002490666

ClinVar Variation:

68570

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Ala1755Thr	CA285021 NM_001353957.2:c.5263G>A