{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829467589",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1251,
          "referenceAllele": "R",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Arg1251Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1706711",
          "hgvs": "NM_003494.4:c.3751C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=630446[alleleid]",
        "alleleId": 630446,
        "preferredName": "NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/642711",
        "RCV": [
          "RCV000796223",
          "RCV001507562",
          "RCV001272837"
        ],
        "variationId": 642711
      }
    ]
  },
  "type": "amino-acid"
}