{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580152683",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1126,
          "referenceAllele": "W",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124454.1:p.Trp1126Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347218250",
          "hgvs": "NM_001130982.2:c.3376T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347218251",
          "hgvs": "NM_001130982.2:c.3376T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1885425[alleleid]",
        "alleleId": 1885425,
        "preferredName": "NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3072424[alleleid]",
        "alleleId": 3072424,
        "preferredName": "NM_001130987.2(DYSF):c.3334T>A (p.Trp1112Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2153164",
        "RCV": [
          "RCV003085524",
          "RCV003465948"
        ],
        "variationId": 2153164
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2919542",
        "RCV": [
          "RCV003739399"
        ],
        "variationId": 2919542
      }
    ]
  },
  "type": "amino-acid"
}