{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA113440",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 84,
          "referenceAllele": "V",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Val84Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA172218",
          "hgvs": "NM_004004.6:c.250G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA234087",
          "hgvs": "NM_004004.6:c.250G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32071[alleleid]",
        "alleleId": 32071,
        "preferredName": "NM_004004.6(GJB2):c.250G>C (p.Val84Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177744[alleleid]",
        "alleleId": 177744,
        "preferredName": "NM_004004.6(GJB2):c.250G>T (p.Val84Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17032",
        "RCV": [
          "RCV000018560",
          "RCV000211770",
          "RCV000146012",
          "RCV001041795",
          "RCV002504805",
          "RCV001257042",
          "RCV003335046"
        ],
        "variationId": 17032
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167134",
        "RCV": [
          "RCV000169112",
          "RCV000505951",
          "RCV000790715"
        ],
        "variationId": 167134
      }
    ]
  },
  "type": "amino-acid"
}