Allele Registry

Canonical Allele Identifier: PA2827770914

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059403

RCV000818870

RCV002054912

ClinVar Variation:

68530

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Leu1196Pro	CA284925 NM_001353951.2:c.3587T>C