Canonical Allele Identifier: PA2827759812
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189952
ClinVar RCV Id: RCV000180905
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Ala1328Val
CA303389
NM_001353949.2:c.3983C>T