Allele Registry

Canonical Allele Identifier: PA916036762

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180970

RCV003588457

ClinVar Variation:

190014

2734302

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Val576Leu	CA303554 NM_001353961.2:c.1726G>C CA349050206 NM_001353961.2:c.1726G>T