{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139746432",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 230,
          "referenceAllele": "S",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NP_667338.3:p.Ser230Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2835368",
          "hgvs": "NM_147127.5:c.690C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA356148250",
          "hgvs": "NM_147127.5:c.690C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA356148254",
          "hgvs": "NM_147127.5:c.688A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182109"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=891917[alleleid]",
        "alleleId": 891917,
        "preferredName": "NM_147127.5(EVC2):c.690C>G (p.Ser230Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/904868",
        "RCV": [
          "RCV001153035",
          "RCV002559476"
        ],
        "variationId": 904868
      }
    ]
  },
  "type": "amino-acid"
}