{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915961220",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "R",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NP_000149.4:p.Arg262Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115764",
          "hgvs": "NM_000158.4:c.784C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674056"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17830[alleleid]",
        "alleleId": 17830,
        "preferredName": "NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2791",
        "RCV": [
          "RCV000002925",
          "RCV000501317",
          "RCV001826408",
          "RCV002512687"
        ],
        "variationId": 2791
      }
    ]
  },
  "type": "amino-acid"
}