Allele Registry

Canonical Allele Identifier: PA2826259036

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187808

ClinVar RCV:

RCV000180925

ClinVar Variation:

189971

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Tyr827Asp	CA303448 NM_001202435.3:c.2479T>G