{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825749039",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 82,
          "referenceAllele": "G",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124449.1:p.Gly82Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1705295",
          "hgvs": "NM_001130977.2:c.244G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347204115",
          "hgvs": "NM_001130977.2:c.244G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152618"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=943090[alleleid]",
        "alleleId": 943090,
        "preferredName": "NM_001130987.2(DYSF):c.247G>A (p.Gly83Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2028754[alleleid]",
        "alleleId": 2028754,
        "preferredName": "NM_001130987.2(DYSF):c.247G>C (p.Gly83Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/960932",
        "RCV": [
          "RCV001234543"
        ],
        "variationId": 960932
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1968746",
        "RCV": [
          "RCV002712026"
        ],
        "variationId": 1968746
      }
    ]
  },
  "type": "amino-acid"
}