Canonical Allele Identifier: PA303569
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_001159435.1:p.Tyr349Cys
CA303567
NM_001165963.4:c.1046A>G