{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA278737",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 403,
          "referenceAllele": "Y",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_000251.3:p.Tyr403Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278736",
          "hgvs": "NM_000260.4:c.1208A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146807"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178248[alleleid]",
        "alleleId": 178248,
        "preferredName": "NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178667",
        "RCV": [
          "RCV000155424",
          "RCV000594093",
          "RCV000675112",
          "RCV001089675"
        ],
        "variationId": 178667
      }
    ]
  },
  "type": "amino-acid"
}