Allele Registry

Canonical Allele Identifier: PA2827767582

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000482880

RCV003221302

ClinVar Variation:

420883

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Thr1647Pro	CA16617285 NM_001353950.2:c.4939A>C