{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891866150",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 82,
          "referenceAllele": "V",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NP_001310968.1:p.Val82Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340120",
          "hgvs": "NM_001324039.2:c.244G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS652729"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18797[alleleid]",
        "alleleId": 18797,
        "preferredName": "NM_000375.3(UROS):c.244G>T (p.Val82Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3758",
        "RCV": [
          "RCV000003956",
          "RCV003480019"
        ],
        "variationId": 3758
      }
    ]
  },
  "type": "amino-acid"
}