Allele Registry

Canonical Allele Identifier: PA2827759741

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000781833

RCV001054959

ClinVar Variation:

633407

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Pro1312Leu	CA349053029 NM_001353949.2:c.3935C>T