Canonical Allele Identifier: PA2827756839
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190018
ClinVar RCV Id: RCV000180974 RCV003588585
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Tyr349Cys
CA303567
NM_001353949.2:c.1046A>G