Canonical Allele Identifier: PA2827783851
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68568
ClinVar RCV Id: RCV000059443 RCV000693267
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Ser1745Phe
CA285015
NM_001353957.2:c.5234C>T