{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093076",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 93,
          "referenceAllele": "G",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008142",
      "geneNCBI_id": 80207,
      "geneSymbol": "OPA3",
      "hgvs": [
        "NP_079412.1:p.Gly93Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340206",
          "hgvs": "NM_025136.4:c.277G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19279[alleleid]",
        "alleleId": 19279,
        "preferredName": "NM_025136.4(OPA3):c.277G>A (p.Gly93Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4240",
        "RCV": [
          "RCV000004462"
        ],
        "variationId": 4240
      }
    ]
  },
  "type": "amino-acid"
}