{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA121826",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006315",
      "geneNCBI_id": 3795,
      "geneSymbol": "KHK",
      "hgvs": [
        "NP_000212.1:p.Ala43Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121825",
          "hgvs": "NM_000221.3:c.127G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146770"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27071[alleleid]",
        "alleleId": 27071,
        "preferredName": "NM_006488.3(KHK):c.127G>A (p.Ala43Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12032",
        "RCV": [
          "RCV000012812"
        ],
        "variationId": 12032
      }
    ]
  },
  "type": "amino-acid"
}