{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826012411",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 783,
          "referenceAllele": "F",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_001159436.1:p.Phe783Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA349062761",
          "hgvs": "NM_001165964.3:c.2348T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155212"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3224742[alleleid]",
        "alleleId": 3224742,
        "preferredName": "NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3064538",
        "RCV": [
          "RCV003989079"
        ],
        "variationId": 3064538
      }
    ]
  },
  "type": "amino-acid"
}