Allele Registry

Canonical Allele Identifier: PA2827775468

Gene: SCN1A HGNC NCBI

ClinVar Allele:

486739

ClinVar RCV:

RCV000585806

RCV001853962

ClinVar Variation:

495270

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Tyr165His	CA349075669 NM_001353954.2:c.493T>C