Allele Registry

Canonical Allele Identifier: PA2827758617

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636437

RCV001384352

ClinVar Variation:

530535

1071810

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Glu943Asp	CA349061108 NM_001353949.2:c.2829G>C CA349061111 NM_001353949.2:c.2829G>T