Allele Registry

Canonical Allele Identifier: PA2827786832

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059446

RCV000189000

RCV001207693

ClinVar Variation:

68571

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Ala1755Val	CA285024 NM_001353958.2:c.5264C>T