Allele Registry

Canonical Allele Identifier: PA2827780198

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180970

RCV003588457

ClinVar Variation:

190014

2734302

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Val1378Leu	CA303554 NM_001353955.2:c.4132G>C CA349050206 NM_001353955.2:c.4132G>T