{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915980703",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 336,
          "referenceAllele": "R",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_001120652.1:p.Arg336Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA177368",
          "hgvs": "NM_001127180.2:c.1006C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151998"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=176881[alleleid]",
        "alleleId": 176881,
        "preferredName": "NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/164665",
        "RCV": [
          "RCV000151483",
          "RCV001075256",
          "RCV001109644",
          "RCV001109643",
          "RCV001109642",
          "RCV001514137"
        ],
        "variationId": 164665
      }
    ]
  },
  "type": "amino-acid"
}