Allele Registry

Canonical Allele Identifier: PA317599

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188998

RCV001065456

RCV003156083

ClinVar Variation:

206863

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Phe1753Tyr	CA317597 NM_006920.6:c.5258T>A