{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112722",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 141,
          "referenceAllele": "I",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "NP_001005752.1:p.Ile141Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253870",
          "hgvs": "NM_001005752.2:c.421A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21527[alleleid]",
        "alleleId": 21527,
        "preferredName": "NM_024009.3(GJB3):c.421A>G (p.Ile141Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6488",
        "RCV": [
          "RCV000006861"
        ],
        "variationId": 6488
      }
    ]
  },
  "type": "amino-acid"
}