{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA097732",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 186,
          "referenceAllele": "E",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NP_000157.1:p.Glu186Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341609",
          "hgvs": "NM_000166.6:c.556G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146716"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33938[alleleid]",
        "alleleId": 33938,
        "preferredName": "NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21086",
        "RCV": [
          "RCV000020176",
          "RCV000789812",
          "RCV000654837",
          "RCV001815168",
          "RCV002345250"
        ],
        "variationId": 21086
      }
    ]
  },
  "type": "amino-acid"
}