{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA114980",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NP_001135773.1:p.Cys534Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114977",
          "hgvs": "NM_001142301.1:c.1600T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16422[alleleid]",
        "alleleId": 16422,
        "preferredName": "NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1383",
        "RCV": [
          "RCV000001452",
          "RCV000001451",
          "RCV000283682",
          "RCV000234823",
          "RCV000415055",
          "RCV000479077",
          "RCV000534533",
          "RCV000623857",
          "RCV000627004",
          "RCV000763610",
          "RCV001197497"
        ],
        "variationId": 1383
      }
    ]
  },
  "type": "amino-acid"
}