Allele Registry

Canonical Allele Identifier: PA2827774311

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413422

RCV000692374

ClinVar Variation:

372966

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Ala1430Thr	CA16042433 NM_001353952.2:c.4288G>A