{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139750723",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 119,
          "referenceAllele": "P",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NP_071372.1:p.Pro119Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA637660",
          "hgvs": "NM_022089.4:c.356C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177714"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=822991[alleleid]",
        "alleleId": 822991,
        "preferredName": "NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/835887",
        "RCV": [
          "RCV001036883",
          "RCV004031008"
        ],
        "variationId": 835887
      }
    ]
  },
  "type": "amino-acid"
}