{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580282787",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 19,
          "referenceAllele": "S",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Ser19Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6904327",
          "hgvs": "NM_004004.6:c.56G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2825002101",
          "hgvs": "NM_004004.6:c.56_57delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1983023[alleleid]",
        "alleleId": 1983023,
        "preferredName": "NM_004004.6(GJB2):c.56G>T (p.Ser19Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3392727[alleleid]",
        "alleleId": 3392727,
        "preferredName": "NM_004004.6(GJB2):c.56_57delinsTT (p.Ser19Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1924123",
        "RCV": [
          "RCV002634742"
        ],
        "variationId": 1924123
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3233602",
        "RCV": [
          "RCV004526452"
        ],
        "variationId": 3233602
      }
    ]
  },
  "type": "amino-acid"
}