{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499237705",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 148,
          "referenceAllele": "V",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NP_001091111.1:p.Val148Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10445302",
          "hgvs": "NM_001097642.3:c.442G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151022"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1159822[alleleid]",
        "alleleId": 1159822,
        "preferredName": "NM_000166.6(GJB1):c.442G>A (p.Val148Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1168253",
        "RCV": [
          "RCV001518365",
          "RCV001826374"
        ],
        "variationId": 1168253
      }
    ]
  },
  "type": "amino-acid"
}