{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101478",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 838,
          "referenceAllele": "R",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NP_000171.1:p.Arg838Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397953618",
          "hgvs": "NM_000180.4:c.2513G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146730"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800075[alleleid]",
        "alleleId": 800075,
        "preferredName": "NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/811743",
        "RCV": [
          "RCV001075542",
          "RCV001002057",
          "RCV001869428"
        ],
        "variationId": 811743
      }
    ]
  },
  "type": "amino-acid"
}