{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3249491910",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NP_004990.3:p.Gly704Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA364771124",
          "hgvs": "NM_004999.4:c.2111G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170667"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4850557[alleleid]",
        "alleleId": 4850557,
        "preferredName": "NM_004999.4(MYO6):c.2111G>A (p.Gly704Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4747522",
        "RCV": [
          "RCV006537645"
        ],
        "variationId": 4747522
      }
    ]
  },
  "type": "amino-acid"
}