Allele Registry

Canonical Allele Identifier: PA2826259793

Gene: SCN1A HGNC NCBI

ClinVar Allele:

516552

ClinVar RCV:

RCV000636329

RCV001091664

ClinVar Variation:

530454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Leu1351Pro	CA349050683 NM_001202435.3:c.4052T>C