{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA121145",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4187,
          "referenceAllele": "R",
          "start": 4186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030892",
      "geneNCBI_id": 10075,
      "geneSymbol": "HUWE1",
      "hgvs": [
        "NP_113584.3:p.Arg4187Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121144",
          "hgvs": "NM_031407.7:c.12559C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179134"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25717[alleleid]",
        "alleleId": 25717,
        "preferredName": "NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10678",
        "RCV": [
          "RCV000011424",
          "RCV000585168",
          "RCV002470707"
        ],
        "variationId": 10678
      }
    ]
  },
  "type": "amino-acid"
}