Allele Registry

Canonical Allele Identifier: PA916036996

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188998

RCV001065456

RCV003156083

ClinVar Variation:

206863

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Phe950Tyr	CA317597 NM_001353961.2:c.2849T>A