{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580410539",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "R",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025972",
      "geneNCBI_id": 54854,
      "geneSymbol": "FAM83E",
      "hgvs": [
        "NP_060178.2:p.Arg372Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9553410",
          "hgvs": "NM_017708.4:c.1114C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2195559[alleleid]",
        "alleleId": 2195559,
        "preferredName": "NM_017708.4(FAM83E):c.1114C>T (p.Arg372Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2216009",
        "RCV": [
          "RCV004082773"
        ],
        "variationId": 2216009
      }
    ]
  },
  "type": "amino-acid"
}