{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828320481",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1018,
          "referenceAllele": "H",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_001356294.1:p.His1018Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA182416",
          "hgvs": "NM_001369365.1:c.3053A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178245[alleleid]",
        "alleleId": 178245,
        "preferredName": "NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178483",
        "RCV": [
          "RCV000155231",
          "RCV000288323",
          "RCV000345669",
          "RCV000388720",
          "RCV000974265",
          "RCV004534989"
        ],
        "variationId": 178483
      }
    ]
  },
  "type": "amino-acid"
}