Allele Registry

Canonical Allele Identifier: PA2827754581

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000441570

RCV002522649

ClinVar Variation:

391762

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Ala1685Ser	CA1942700 NM_001353948.2:c.5053G>T