Allele Registry

Canonical Allele Identifier: PA2827790671

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189005

RCV000714534

RCV000714535

RCV003128153

ClinVar Variation:

206867

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ala1020Val	CA317613 NM_001353961.2:c.3059C>T