{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA097283",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 142,
          "referenceAllele": "R",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NP_000157.1:p.Arg142Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA334230",
          "hgvs": "NM_000166.6:c.425G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146716"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186291[alleleid]",
        "alleleId": 186291,
        "preferredName": "NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188174",
        "RCV": [
          "RCV000168077",
          "RCV000714874",
          "RCV000714875",
          "RCV000789950",
          "RCV001657932",
          "RCV002515186"
        ],
        "variationId": 188174
      }
    ]
  },
  "type": "amino-acid"
}