Allele Registry

Canonical Allele Identifier: PA2827767598

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000493826

RCV001865550

ClinVar Variation:

429924

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Leu1649Pro	CA349069907 NM_001353950.2:c.4946T>C