{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA245164",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 570,
          "referenceAllele": "E",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021558",
      "geneNCBI_id": 345895,
      "geneSymbol": "RSPH4A",
      "hgvs": [
        "NP_001010892.1:p.Glu570Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA245163",
          "hgvs": "NM_001010892.3:c.1708G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148656"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194333[alleleid]",
        "alleleId": 194333,
        "preferredName": "NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197172",
        "RCV": [
          "RCV000242421",
          "RCV000543028",
          "RCV000724046",
          "RCV001155427"
        ],
        "variationId": 197172
      }
    ]
  },
  "type": "amino-acid"
}