{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828431513",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 254,
          "referenceAllele": "G",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003522",
      "geneNCBI_id": 2070,
      "geneSymbol": "EYA4",
      "hgvs": [
        "NP_001357387.1:p.Gly254Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA135011",
          "hgvs": "NM_001370458.1:c.760G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709720"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53940[alleleid]",
        "alleleId": 53940,
        "preferredName": "NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44773",
        "RCV": [
          "RCV000037882",
          "RCV000247179",
          "RCV000276894",
          "RCV000332466",
          "RCV002490514"
        ],
        "variationId": 44773
      }
    ]
  },
  "type": "amino-acid"
}