{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830180393",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29,
          "referenceAllele": "P",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008140",
      "geneNCBI_id": 4976,
      "geneSymbol": "OPA1",
      "hgvs": [
        "NP_570845.1:p.Pro29Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2758932",
          "hgvs": "NM_130832.2:c.85C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180944"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488295[alleleid]",
        "alleleId": 488295,
        "preferredName": "NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/496871",
        "RCV": [
          "RCV000594159",
          "RCV001335766",
          "RCV001662637",
          "RCV002530950"
        ],
        "variationId": 496871
      }
    ]
  },
  "type": "amino-acid"
}