{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645413345",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 561,
          "referenceAllele": "H",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028510",
      "geneNCBI_id": 169792,
      "geneSymbol": "GLIS3",
      "hgvs": [
        "NP_001035878.1:p.His561Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10586166",
          "hgvs": "NM_001042413.2:c.1681C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150150"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247455[alleleid]",
        "alleleId": 247455,
        "preferredName": "NM_001042413.2(GLIS3):c.1681C>T (p.His561Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/253044",
        "RCV": [
          "RCV000239596"
        ],
        "variationId": 253044
      }
    ]
  },
  "type": "amino-acid"
}