Allele Registry

Canonical Allele Identifier: PA303530

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180961

ClinVar Variation:

190005

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Arg1645Pro	CA303527 NM_001165963.4:c.4934G>C