Allele Registry

Canonical Allele Identifier: PA645403590

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413254

RCV002274024

RCV002523945

ClinVar Variation:

373282

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Met976Thr	CA16042359 NM_001165963.4:c.2927T>C