Allele Registry

Canonical Allele Identifier: PA2827752247

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000030432

RCV000079572

RCV000338109

RCV000401331

RCV000860058

RCV001132319

RCV002311528

ClinVar Variation:

36753

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Ala1067Thr	CA214227 NM_001353948.2:c.3199G>A