Allele Registry

Canonical Allele Identifier: PA317616

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201440

ClinVar RCV:

RCV000189005

RCV000714534

RCV000714535

RCV003128153

ClinVar Variation:

206867

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Ala1834Val	CA317613 NM_001165963.4:c.5501C>T