{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828319516",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "referenceAllele": "S",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_001356294.1:p.Ser200Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278707",
          "hgvs": "NM_001369365.1:c.598A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52495[alleleid]",
        "alleleId": 52495,
        "preferredName": "NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43325",
        "RCV": [
          "RCV000036230",
          "RCV000675104",
          "RCV001073506",
          "RCV001275896",
          "RCV001852751",
          "RCV002496555"
        ],
        "variationId": 43325
      }
    ]
  },
  "type": "amino-acid"
}