{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825753817",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124451.1:p.Gly330Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253916",
          "hgvs": "NM_001130979.2:c.988G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA49761605",
          "hgvs": "NM_001130979.2:c.988G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152620"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21720[alleleid]",
        "alleleId": 21720,
        "preferredName": "NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=826933[alleleid]",
        "alleleId": 826933,
        "preferredName": "NM_001130987.2(DYSF):c.991G>C (p.Gly331Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6681",
        "RCV": [
          "RCV000007068",
          "RCV000726614",
          "RCV001388966",
          "RCV003460431"
        ],
        "variationId": 6681
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/837557",
        "RCV": [
          "RCV001038919"
        ],
        "variationId": 837557
      }
    ]
  },
  "type": "amino-acid"
}