{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828321362",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1783,
          "referenceAllele": "R",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_001356294.1:p.Arg1783Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA182436",
          "hgvs": "NM_001369365.1:c.5348G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175235[alleleid]",
        "alleleId": 175235,
        "preferredName": "NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178494",
        "RCV": [
          "RCV000155242",
          "RCV000477766",
          "RCV001241068",
          "RCV001826836"
        ],
        "variationId": 178494
      }
    ]
  },
  "type": "amino-acid"
}