Allele Registry

Canonical Allele Identifier: PA2827754440

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059523

RCV000529623

ClinVar Variation:

68643

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Thr1658Met	CA285192 NM_001353948.2:c.4973C>T