Allele Registry

Canonical Allele Identifier: PA2826013219

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000482328

RCV002525772

ClinVar Variation:

418476

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Val1338Leu	CA16617293 NM_001165964.3:c.4012G>T CA349050477 NM_001165964.3:c.4012G>C