{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA134948",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 4,
          "referenceAllele": "G",
          "start": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Gly4Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA134947",
          "hgvs": "NM_004004.6:c.11G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53891[alleleid]",
        "alleleId": 53891,
        "preferredName": "NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44724",
        "RCV": [
          "RCV000037814",
          "RCV000290549",
          "RCV000321209",
          "RCV000345561",
          "RCV000756205"
        ],
        "variationId": 44724
      }
    ]
  },
  "type": "amino-acid"
}