{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139667995",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 156,
          "referenceAllele": "R",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NP_000149.4:p.Arg156Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2499959",
          "hgvs": "NM_000158.4:c.466C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674056"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=978001[alleleid]",
        "alleleId": 978001,
        "preferredName": "NM_000158.4(GBE1):c.466C>T (p.Arg156Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/989810",
        "RCV": [
          "RCV001277707",
          "RCV002224045",
          "RCV002537765",
          "RCV004035456"
        ],
        "variationId": 989810
      }
    ]
  },
  "type": "amino-acid"
}