{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580275690",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 802,
          "referenceAllele": "R",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NP_002464.1:p.Arg802Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10209965",
          "hgvs": "NM_002473.6:c.2404C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168322"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2128864[alleleid]",
        "alleleId": 2128864,
        "preferredName": "NM_002473.6(MYH9):c.2404C>T (p.Arg802Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2066179",
        "RCV": [
          "RCV002966075",
          "RCV004536482"
        ],
        "variationId": 2066179
      }
    ]
  },
  "type": "amino-acid"
}