{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139714061",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 113,
          "referenceAllele": "E",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NP_005520.4:p.Glu113Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA673937",
          "hgvs": "NM_005529.7:c.337G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171155"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=863701[alleleid]",
        "alleleId": 863701,
        "preferredName": "NM_005529.7(HSPG2):c.337G>A (p.Glu113Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/875052",
        "RCV": [
          "RCV001098550",
          "RCV001098551",
          "RCV001365000",
          "RCV002557995"
        ],
        "variationId": 875052
      }
    ]
  },
  "type": "amino-acid"
}