{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825747732",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 978,
          "referenceAllele": "W",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124448.1:p.Trp978Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1706376",
          "hgvs": "NM_001130976.2:c.2932T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347216499",
          "hgvs": "NM_001130976.2:c.2932T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152617"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=542336[alleleid]",
        "alleleId": 542336,
        "preferredName": "NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551236",
        "RCV": [
          "RCV000666237",
          "RCV000763506",
          "RCV003465448"
        ],
        "variationId": 551236
      }
    ]
  },
  "type": "amino-acid"
}