{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828319568",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 242,
          "referenceAllele": "H",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_001356294.1:p.His242Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA184923",
          "hgvs": "NM_001369365.1:c.725A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178293[alleleid]",
        "alleleId": 178293,
        "preferredName": "NM_000260.4(MYO7A):c.758A>G (p.His253Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179682",
        "RCV": [
          "RCV000156478",
          "RCV001571850",
          "RCV001826852",
          "RCV002515021"
        ],
        "variationId": 179682
      }
    ]
  },
  "type": "amino-acid"
}