Allele Registry

Canonical Allele Identifier: PA2827784139

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059551

RCV000416094

RCV000537890

RCV000764283

RCV002247465

RCV004019071

ClinVar Variation:

68671

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Glu1929Gly	CA213190 NM_001353957.2:c.5786A>G