Allele Registry

Canonical Allele Identifier: PA2826012677

Gene: SCN1A HGNC NCBI

ClinVar Allele:

359310

ClinVar RCV:

RCV000413254

RCV002274024

RCV002523945

ClinVar Variation:

373282

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Met948Thr	CA16042359 NM_001165964.3:c.2843T>C