{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827914574",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 321,
          "referenceAllele": "R",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NP_001341593.1:p.Arg321His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA275012",
          "hgvs": "NM_001354664.2:c.962G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618486"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20130[alleleid]",
        "alleleId": 20130,
        "preferredName": "NM_130837.3(OPA1):c.1499G>A (p.Arg500His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5091",
        "RCV": [
          "RCV000005396",
          "RCV000081749",
          "RCV000508953",
          "RCV003137493",
          "RCV003492285"
        ],
        "variationId": 5091
      }
    ]
  },
  "type": "amino-acid"
}