{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA142310",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 608,
          "referenceAllele": "P",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "NP_710142.1:p.Pro608Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA142309",
          "hgvs": "NM_153676.4:c.1823C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182971"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20187[alleleid]",
        "alleleId": 20187,
        "preferredName": "NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5148",
        "RCV": [
          "RCV000005455",
          "RCV000041259",
          "RCV000755427",
          "RCV001276292",
          "RCV001797045"
        ],
        "variationId": 5148
      }
    ]
  },
  "type": "amino-acid"
}