Canonical Allele Identifier: PA1139740815
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 976067
ClinVar RCV Id: RCV001253246

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Leu415Pro
CA349055713
NM_001353961.2:c.1244T>C