{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096712",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 251,
          "referenceAllele": "F",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012572",
      "geneNCBI_id": 7374,
      "geneSymbol": "UNG",
      "hgvs": [
        "NP_550433.1:p.Phe251Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA122119",
          "hgvs": "NM_080911.3:c.752T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27331[alleleid]",
        "alleleId": 27331,
        "preferredName": "NM_080911.3(UNG):c.752T>C (p.Phe251Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12292",
        "RCV": [
          "RCV000013086"
        ],
        "variationId": 12292
      }
    ]
  },
  "type": "amino-acid"
}