Allele Registry

Canonical Allele Identifier: PA2827788534

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000032605

RCV000794577

ClinVar Variation:

12890

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Leu957Phe	CA281911 NM_001353960.2:c.2869C>T