{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825837379",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1043,
          "referenceAllele": "R",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NP_001135446.1:p.Arg1043Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA636486",
          "hgvs": "NM_001141974.3:c.3127C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153256"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=277512[alleleid]",
        "alleleId": 277512,
        "preferredName": "NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/293765",
        "RCV": [
          "RCV000403466",
          "RCV000875471",
          "RCV001660565",
          "RCV002450840",
          "RCV004549644"
        ],
        "variationId": 293765
      }
    ]
  },
  "type": "amino-acid"
}