{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829799611",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 193,
          "referenceAllele": "F",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NP_056375.2:p.Phe193Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA355788209",
          "hgvs": "NM_015560.3:c.578T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174646"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1985712[alleleid]",
        "alleleId": 1985712,
        "preferredName": "NM_130837.3(OPA1):c.632T>C (p.Phe211Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1934587",
        "RCV": [
          "RCV002632053"
        ],
        "variationId": 1934587
      }
    ]
  },
  "type": "amino-acid"
}