Allele Registry

Canonical Allele Identifier: PA2827769316

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059536

RCV001062878

ClinVar Variation:

68656

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Ala175Thr	CA285225 NM_001353951.2:c.523G>A