{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825809873",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "referenceAllele": "R",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NP_001136121.1:p.Arg757Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130516",
          "hgvs": "NM_001142649.2:c.2269C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153495"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17205[alleleid]",
        "alleleId": 17205,
        "preferredName": "NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2166",
        "RCV": [
          "RCV000002250",
          "RCV000032966",
          "RCV000128778",
          "RCV000811162"
        ],
        "variationId": 2166
      }
    ]
  },
  "type": "amino-acid"
}