Canonical Allele Identifier: PA2827758259
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189949
ClinVar RCV Id: RCV000180902 RCV001531324
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Ser861Tyr
CA303383
NM_001353949.2:c.2582C>A