{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825756723",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 947,
          "referenceAllele": "W",
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      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
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      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_001130980.2:c.2841G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10605211",
          "hgvs": "NM_001130980.2:c.2841G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177686[alleleid]",
        "alleleId": 177686,
        "preferredName": "NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269939[alleleid]",
        "alleleId": 269939,
        "preferredName": "NM_001130987.2(DYSF):c.2844G>T (p.Trp948Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167021",
        "RCV": [
          "RCV000153178",
          "RCV000668306",
          "RCV003462058",
          "RCV003329115"
        ],
        "variationId": 167021
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285702",
        "RCV": [
          "RCV000331425"
        ],
        "variationId": 285702
      }
    ]
  },
  "type": "amino-acid"
}