Allele Registry

Canonical Allele Identifier: PA2827761002

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059523

RCV000529623

ClinVar Variation:

68643

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Thr1647Met	CA285192 NM_001353949.2:c.4940C>T