{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826846553",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 130,
          "referenceAllele": "V",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "NP_001284693.1:p.Val130Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA142377",
          "hgvs": "NM_001297764.2:c.388G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165235"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20188[alleleid]",
        "alleleId": 20188,
        "preferredName": "NM_153676.4(USH1C):c.388G>A (p.Val130Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5149",
        "RCV": [
          "RCV000005456",
          "RCV000041291",
          "RCV000972120",
          "RCV002496267"
        ],
        "variationId": 5149
      }
    ]
  },
  "type": "amino-acid"
}