{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828750171",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NP_001365164.1:p.Cys94Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394986832",
          "hgvs": "NM_001378235.1:c.280T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734695"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1336434[alleleid]",
        "alleleId": 1336434,
        "preferredName": "NM_003361.4(UMOD):c.280T>C (p.Cys94Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1344661",
        "RCV": [
          "RCV002251595"
        ],
        "variationId": 1344661
      }
    ]
  },
  "type": "amino-acid"
}