Allele Registry

Canonical Allele Identifier: PA916036474

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413254

RCV002274024

RCV002523945

ClinVar Variation:

373282

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Met976Thr	CA16042359 NM_001353948.2:c.2927T>C