{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825835556",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 750,
          "referenceAllele": "Q",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NP_001135445.1:p.Gln750Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA636893",
          "hgvs": "NM_001141973.3:c.2248C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153255"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=278382[alleleid]",
        "alleleId": 278382,
        "preferredName": "NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/293784",
        "RCV": [
          "RCV000395373",
          "RCV001329888",
          "RCV001048930",
          "RCV001660566",
          "RCV002317825",
          "RCV004549646"
        ],
        "variationId": 293784
      }
    ]
  },
  "type": "amino-acid"
}