Canonical Allele Identifier: PA2827756772
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 279592
ClinVar RCV Id: RCV000258942

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Ala342Glu
CA10602709
NM_001353949.2:c.1025C>A