{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA266128",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1784,
          "referenceAllele": "E",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NP_008851.3:p.Glu1784Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA266126",
          "hgvs": "NM_006920.6:c.5350G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172428"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79552[alleleid]",
        "alleleId": 79552,
        "preferredName": "NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68660",
        "RCV": [
          "RCV000059540",
          "RCV000489760",
          "RCV000764284",
          "RCV000792317"
        ],
        "variationId": 68660
      }
    ]
  },
  "type": "amino-acid"
}