{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829468589",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1720,
          "referenceAllele": "R",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Arg1720Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1707308",
          "hgvs": "NM_003494.4:c.5158C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=630464[alleleid]",
        "alleleId": 630464,
        "preferredName": "NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/643300",
        "RCV": [
          "RCV000796972",
          "RCV001830714",
          "RCV003489878"
        ],
        "variationId": 643300
      }
    ]
  },
  "type": "amino-acid"
}