{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA118314",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "referenceAllele": "A",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "NP_076872.1:p.Ala194Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118313",
          "hgvs": "NM_024009.3:c.580G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178130"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21532[alleleid]",
        "alleleId": 21532,
        "preferredName": "NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6493",
        "RCV": [
          "RCV000006866",
          "RCV000404541",
          "RCV001510379",
          "RCV002504756"
        ],
        "variationId": 6493
      }
    ]
  },
  "type": "amino-acid"
}