{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096763",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 239,
          "referenceAllele": "R",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004274",
      "geneNCBI_id": 2697,
      "geneSymbol": "GJA1",
      "hgvs": [
        "NP_000156.1:p.Arg239Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203900",
          "hgvs": "NM_000165.5:c.716G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146715"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75586[alleleid]",
        "alleleId": 75586,
        "preferredName": "NM_000165.5(GJA1):c.716G>A (p.Arg239Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64622",
        "RCV": [
          "RCV000185622",
          "RCV000513765",
          "RCV001853081"
        ],
        "variationId": 64622
      }
    ]
  },
  "type": "amino-acid"
}