{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA113443",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 84,
          "referenceAllele": "V",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Val84Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA257683",
          "hgvs": "NM_004004.6:c.250G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32075[alleleid]",
        "alleleId": 32075,
        "preferredName": "NM_004004.6(GJB2):c.250G>A (p.Val84Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17036",
        "RCV": [
          "RCV000018564",
          "RCV000254760",
          "RCV000211769",
          "RCV000410225",
          "RCV000626853",
          "RCV004532387"
        ],
        "variationId": 17036
      }
    ]
  },
  "type": "amino-acid"
}