{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830181231",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 158,
          "referenceAllele": "R",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NP_570846.1:p.Arg158Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA355788218",
          "hgvs": "NM_130833.2:c.474A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA355788220",
          "hgvs": "NM_130833.2:c.474A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180945"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1987253[alleleid]",
        "alleleId": 1987253,
        "preferredName": "NM_130837.3(OPA1):c.636A>C (p.Arg212Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1927071",
        "RCV": [
          "RCV002609705"
        ],
        "variationId": 1927071
      }
    ]
  },
  "type": "amino-acid"
}