Canonical Allele Identifier: PA2827781931
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 498722
ClinVar RCV Id: RCV000591739 RCV001854025
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Gln454Lys
CA349070288
NM_001353957.2:c.1360C>A