{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA132256",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 853,
          "referenceAllele": "R",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_000251.3:p.Arg853His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA132255",
          "hgvs": "NM_000260.4:c.2558G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146807"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52356[alleleid]",
        "alleleId": 52356,
        "preferredName": "NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43186",
        "RCV": [
          "RCV000036090",
          "RCV000765015",
          "RCV000724679",
          "RCV000791456",
          "RCV001004783",
          "RCV004534755"
        ],
        "variationId": 43186
      }
    ]
  },
  "type": "amino-acid"
}