Allele Registry

Canonical Allele Identifier: PA2827785554

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413254

RCV002274024

RCV002523945

ClinVar Variation:

373282

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Met948Thr	CA16042359 NM_001353958.2:c.2843T>C