{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825767210",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 809,
          "referenceAllele": "P",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124457.1:p.Pro809Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA222139",
          "hgvs": "NM_001130985.2:c.2426C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152626"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21710[alleleid]",
        "alleleId": 21710,
        "preferredName": "NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6671",
        "RCV": [
          "RCV000007055",
          "RCV000007056",
          "RCV000790785",
          "RCV000807968"
        ],
        "variationId": 6671
      }
    ]
  },
  "type": "amino-acid"
}