{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828290640",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 299,
          "referenceAllele": "E",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007605",
      "geneNCBI_id": 4646,
      "geneSymbol": "MYO6",
      "hgvs": [
        "NP_001355794.1:p.Glu299Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16609563",
          "hgvs": "NM_001368865.1:c.897G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA364752703",
          "hgvs": "NM_001368865.1:c.897G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709816"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389225[alleleid]",
        "alleleId": 389225,
        "preferredName": "NM_004999.4(MYO6):c.897G>T (p.Glu299Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/402263",
        "RCV": [
          "RCV000454125",
          "RCV001808829"
        ],
        "variationId": 402263
      }
    ]
  },
  "type": "amino-acid"
}