{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825753652",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 186,
          "referenceAllele": "G",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124451.1:p.Gly186Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1705380",
          "hgvs": "NM_001130979.2:c.556G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA49758528",
          "hgvs": "NM_001130979.2:c.556G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152620"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269385[alleleid]",
        "alleleId": 269385,
        "preferredName": "NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1895536[alleleid]",
        "alleleId": 1895536,
        "preferredName": "NM_001130987.2(DYSF):c.559G>C (p.Gly187Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285148",
        "RCV": [
          "RCV000301411",
          "RCV001082288",
          "RCV001833344"
        ],
        "variationId": 285148
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2166693",
        "RCV": [
          "RCV003091891"
        ],
        "variationId": 2166693
      }
    ]
  },
  "type": "amino-acid"
}