{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916021762",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 50,
          "referenceAllele": "C",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009606",
      "geneNCBI_id": 5741,
      "geneSymbol": "PTH",
      "hgvs": [
        "NP_001303281.1:p.Cys50Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123436",
          "hgvs": "NM_001316352.2:c.148T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167061"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28795[alleleid]",
        "alleleId": 28795,
        "preferredName": "NM_000315.4(PTH):c.52T>C (p.Cys18Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13756",
        "RCV": [
          "RCV000014764"
        ],
        "variationId": 13756
      }
    ]
  },
  "type": "amino-acid"
}