{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825588012",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 87,
          "referenceAllele": "R",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015832",
      "geneNCBI_id": 26580,
      "geneSymbol": "BSCL2",
      "hgvs": [
        "NP_001116427.1:p.Arg87Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA380970705",
          "hgvs": "NM_001122955.4:c.259C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151902"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1708394[alleleid]",
        "alleleId": 1708394,
        "preferredName": "NM_001122955.4(BSCL2):c.259C>T (p.Arg87Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1710041",
        "RCV": [
          "RCV002290383"
        ],
        "variationId": 1710041
      }
    ]
  },
  "type": "amino-acid"
}