{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913192552",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 380,
          "referenceAllele": "R",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NP_000171.1:p.Arg380Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8365663",
          "hgvs": "NM_000180.4:c.1138C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146730"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=610116[alleleid]",
        "alleleId": 610116,
        "preferredName": "NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/618152",
        "RCV": [
          "RCV000756220",
          "RCV001078901"
        ],
        "variationId": 618152
      }
    ]
  },
  "type": "amino-acid"
}