Allele Registry

Canonical Allele Identifier: PA2826013488

Gene: SCN1A HGNC NCBI

ClinVar Allele:

80297

ClinVar RCV:

RCV000209885

RCV000494091

RCV000702992

RCV004528267

ClinVar Variation:

69406

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Ser1488Leu	CA357173 NM_001165964.3:c.4463C>T