{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658826619",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004685",
      "geneNCBI_id": 2982,
      "geneSymbol": "GUCY1A1",
      "hgvs": [
        "NP_000847.2:p.Cys517Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3117398",
          "hgvs": "NM_000856.6:c.1550G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147359"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=550318[alleleid]",
        "alleleId": 550318,
        "preferredName": "NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/559597",
        "RCV": [
          "RCV000677374",
          "RCV000755174"
        ],
        "variationId": 559597
      }
    ]
  },
  "type": "amino-acid"
}