Allele Registry

Canonical Allele Identifier: PA2827783126

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000482328

RCV002525772

ClinVar Variation:

418476

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Val1338Leu	CA16617293 NM_001353957.2:c.4012G>T CA349050477 NM_001353957.2:c.4012G>C