{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057576487",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "RSIYHS",
          "end": 43,
          "referenceAllele": "",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NP_570850.2:p.Arg38_Ser43dup"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA904541900",
          "hgvs": "NM_130837.2:c.113_130dup"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180949"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1329888[alleleid]",
        "alleleId": 1329888,
        "preferredName": "NM_130837.3(OPA1):c.113_130dup (p.Arg38_Ser43dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1338854",
        "RCV": [
          "RCV001823088"
        ],
        "variationId": 1338854
      }
    ]
  },
  "type": "amino-acid"
}