{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139748327",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 289,
          "referenceAllele": "E",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NP_212134.3:p.Glu289Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9724664",
          "hgvs": "NM_033409.4:c.865G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180246"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=939059[alleleid]",
        "alleleId": 939059,
        "preferredName": "NM_033409.4(SLC52A3):c.865G>A (p.Glu289Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/934011",
        "RCV": [
          "RCV001202337",
          "RCV001586041",
          "RCV002375128"
        ],
        "variationId": 934011
      }
    ]
  },
  "type": "amino-acid"
}