{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA264234",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 248,
          "referenceAllele": "C",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NP_003352.2:p.Cys248Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA264233",
          "hgvs": "NM_003361.4:c.743G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394984812",
          "hgvs": "NM_003361.4:c.742T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169151"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75598[alleleid]",
        "alleleId": 75598,
        "preferredName": "NM_003361.4(UMOD):c.743G>C (p.Cys248Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64644",
        "RCV": [
          "RCV002251329"
        ],
        "variationId": 64644
      }
    ]
  },
  "type": "amino-acid"
}