{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829688738",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NP_009054.6:p.Cys536Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA262095",
          "hgvs": "NM_007123.6:c.1606T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57633[alleleid]",
        "alleleId": 57633,
        "preferredName": "NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48471",
        "RCV": [
          "RCV000041794",
          "RCV000413438",
          "RCV000678646",
          "RCV000787727",
          "RCV002483034",
          "RCV000984314",
          "RCV001074602"
        ],
        "variationId": 48471
      }
    ]
  },
  "type": "amino-acid"
}