{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580338859",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "W",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "NP_008927.1:p.Trp250Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1233018",
          "hgvs": "NM_006996.3:c.750G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA343109823",
          "hgvs": "NM_006996.3:c.750G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172490"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1888998[alleleid]",
        "alleleId": 1888998,
        "preferredName": "NM_006996.3(SLC19A2):c.750G>C (p.Trp250Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2154103",
        "RCV": [
          "RCV003069107"
        ],
        "variationId": 2154103
      }
    ]
  },
  "type": "amino-acid"
}