Allele Registry

Canonical Allele Identifier: PA1139740459

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV001045336

ClinVar Variation:

842847

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Phe1815Leu	CA349067524 NM_001353948.2:c.5445T>G CA349067526 NM_001353948.2:c.5445T>A CA349067536 NM_001353948.2:c.5443T>C