Allele Registry

Canonical Allele Identifier: PA2827783959

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201440

ClinVar RCV:

RCV000189005

RCV000714534

RCV000714535

RCV003128153

ClinVar Variation:

206867

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Ala1806Val	CA317613 NM_001353957.2:c.5417C>T