Canonical Allele Identifier: PA2827781389
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190002
ClinVar RCV Id: RCV000180958
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.His127Leu
CA303521
NM_001353957.2:c.380A>T