{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580530491",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012597",
      "geneNCBI_id": 10083,
      "geneSymbol": "USH1C",
      "hgvs": [
        "NP_710142.1:p.Cys224Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379793144",
          "hgvs": "NM_153676.4:c.671G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182971"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1701702[alleleid]",
        "alleleId": 1701702,
        "preferredName": "NM_153676.4(USH1C):c.671G>A (p.Cys224Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1705618",
        "RCV": [
          "RCV002283932"
        ],
        "variationId": 1705618
      }
    ]
  },
  "type": "amino-acid"
}