{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825768836",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "R",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124458.1:p.Arg193Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1705409",
          "hgvs": "NM_001130986.2:c.577C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152627"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2123047[alleleid]",
        "alleleId": 2123047,
        "preferredName": "NM_001130987.2(DYSF):c.670C>T (p.Arg224Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2071670",
        "RCV": [
          "RCV002975763",
          "RCV003146698"
        ],
        "variationId": 2071670
      }
    ]
  },
  "type": "amino-acid"
}