Allele Registry

Canonical Allele Identifier: PA2827753294

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000482328

RCV002525772

ClinVar Variation:

418476

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Val1366Leu	CA16617293 NM_001353948.2:c.4096G>T CA349050477 NM_001353948.2:c.4096G>C