{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830183701",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 419,
          "referenceAllele": "I",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NP_570849.2:p.Ile419Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA143824",
          "hgvs": "NM_130836.2:c.1257A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180948"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59852[alleleid]",
        "alleleId": 59852,
        "preferredName": "NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50866",
        "RCV": [
          "RCV000043607",
          "RCV000081747",
          "RCV000210748",
          "RCV000677258",
          "RCV001249638",
          "RCV001267306",
          "RCV004537182",
          "RCV003993775"
        ],
        "variationId": 50866
      }
    ]
  },
  "type": "amino-acid"
}