{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA341593",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 41,
          "referenceAllele": "E",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NP_000157.1:p.Glu41Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341591",
          "hgvs": "NM_000166.6:c.123G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413501011",
          "hgvs": "NM_000166.6:c.123G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146716"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33931[alleleid]",
        "alleleId": 33931,
        "preferredName": "NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21079",
        "RCV": [
          "RCV000020169",
          "RCV000789264"
        ],
        "variationId": 21079
      }
    ]
  },
  "type": "amino-acid"
}