{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828750475",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NP_001365166.1:p.Cys148Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394985947",
          "hgvs": "NM_001378237.1:c.444T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734685"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=984043[alleleid]",
        "alleleId": 984043,
        "preferredName": "NM_003361.4(UMOD):c.444T>G (p.Cys148Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996329",
        "RCV": [
          "RCV002251407"
        ],
        "variationId": 996329
      }
    ]
  },
  "type": "amino-acid"
}