{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825766204",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1875,
          "referenceAllele": "F",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124456.1:p.Phe1875Leu"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA347223805",
          "hgvs": "NM_001130984.2:c.5623T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347223818",
          "hgvs": "NM_001130984.2:c.5625C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347223820",
          "hgvs": "NM_001130984.2:c.5625C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152625"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1174261[alleleid]",
        "alleleId": 1174261,
        "preferredName": "NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1469202[alleleid]",
        "alleleId": 1469202,
        "preferredName": "NM_001130987.2(DYSF):c.5718C>A (p.Phe1906Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1184483",
        "RCV": [
          "RCV001542524",
          "RCV002568950"
        ],
        "variationId": 1184483
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1350242",
        "RCV": [
          "RCV002051269"
        ],
        "variationId": 1350242
      }
    ]
  },
  "type": "amino-acid"
}