{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA347299",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 80,
          "referenceAllele": "P",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015559",
      "geneNCBI_id": 400916,
      "geneSymbol": "CHCHD10",
      "hgvs": [
        "NP_998885.1:p.Pro80Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347297",
          "hgvs": "NM_213720.3:c.239C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS186142"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200688[alleleid]",
        "alleleId": 200688,
        "preferredName": "NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204292",
        "RCV": [
          "RCV000192233",
          "RCV000558062",
          "RCV000990378",
          "RCV001092755",
          "RCV002221211",
          "RCV002453685",
          "RCV003927730"
        ],
        "variationId": 204292
      }
    ]
  },
  "type": "amino-acid"
}