{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825557018",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 75,
          "referenceAllele": "R",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NP_001103690.1:p.Arg75Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA387468573",
          "hgvs": "NM_001110220.3:c.223C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151632"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1411000[alleleid]",
        "alleleId": 1411000,
        "preferredName": "NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1474469",
        "RCV": [
          "RCV002007632"
        ],
        "variationId": 1474469
      }
    ]
  },
  "type": "amino-acid"
}