Allele Registry

Canonical Allele Identifier: PA2827781440

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000585806

RCV001853962

ClinVar Variation:

495270

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Tyr165His	CA349075669 NM_001353957.2:c.493T>C