{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828375060",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NP_001357014.1:p.Cys386Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA407962325",
          "hgvs": "NM_001370085.1:c.1156T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709367"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=512476[alleleid]",
        "alleleId": 512476,
        "preferredName": "NM_033409.4(SLC52A3):c.1156T>C (p.Cys386Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/521339",
        "RCV": [
          "RCV000622896",
          "RCV001868146"
        ],
        "variationId": 521339
      }
    ]
  },
  "type": "amino-acid"
}