{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826866445",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "referenceAllele": "I",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NP_001288111.1:p.Ile216Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121782",
          "hgvs": "NM_001301182.1:c.647T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165607"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26971[alleleid]",
        "alleleId": 26971,
        "preferredName": "NM_000431.4(MVK):c.803T>C (p.Ile268Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11932",
        "RCV": [
          "RCV000012710",
          "RCV000012709",
          "RCV000191109",
          "RCV000218157",
          "RCV000505909",
          "RCV000698175",
          "RCV002255091",
          "RCV002262564",
          "RCV002512988"
        ],
        "variationId": 11932
      }
    ]
  },
  "type": "amino-acid"
}