{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499288744",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 589,
          "referenceAllele": "P",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NP_071372.1:p.Pro589Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA637089",
          "hgvs": "NM_022089.4:c.1766C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177714"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1175782[alleleid]",
        "alleleId": 1175782,
        "preferredName": "NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1187232",
        "RCV": [
          "RCV001546605",
          "RCV001882618",
          "RCV002405231"
        ],
        "variationId": 1187232
      }
    ]
  },
  "type": "amino-acid"
}