Allele Registry

Canonical Allele Identifier: PA2827750542

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180952

RCV001850422

ClinVar Variation:

189996

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Ala420Val	CA303506 NM_001353948.2:c.1259C>T