{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA226145",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1,
          "referenceAllele": "M",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NP_000171.1:p.Met1Ile"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146730"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104493[alleleid]",
        "alleleId": 104493,
        "preferredName": "NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104494[alleleid]",
        "alleleId": 104494,
        "preferredName": "NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98603",
        "RCV": [
          "RCV000084898",
          "RCV001250813"
        ],
        "variationId": 98603
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98604",
        "RCV": [
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          "RCV001250812",
          "RCV001388964"
        ],
        "variationId": 98604
      }
    ]
  },
  "type": "amino-acid"
}