{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827913790",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 32,
          "referenceAllele": "A",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NP_001341592.1:p.Ala32Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA285739",
          "hgvs": "NM_001354663.2:c.95C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617640"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101626[alleleid]",
        "alleleId": 101626,
        "preferredName": "NM_130837.3(OPA1):c.629C>T (p.Ala210Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95729",
        "RCV": [
          "RCV000081770",
          "RCV000363524",
          "RCV000676693"
        ],
        "variationId": 95729
      }
    ]
  },
  "type": "amino-acid"
}