{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827239612",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 144,
          "referenceAllele": "V",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NP_001310967.1:p.Val144Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5738415",
          "hgvs": "NM_001324038.2:c.431T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS653123"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=320640[alleleid]",
        "alleleId": 320640,
        "preferredName": "NM_000375.3(UROS):c.512T>C (p.Val171Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/299189",
        "RCV": [
          "RCV000371466",
          "RCV001357209"
        ],
        "variationId": 299189
      }
    ]
  },
  "type": "amino-acid"
}