{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916047580",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 355,
          "referenceAllele": "T",
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      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
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      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_001369256.1:c.1063A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10603891",
          "hgvs": "NM_001369256.1:c.1063_1065delinsTCT"
        },
        {
          "@id": "http://reg.genome.network/allele/CA350430574",
          "hgvs": "NM_001369256.1:c.1064C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707151"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265568[alleleid]",
        "alleleId": 265568,
        "preferredName": "NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265712[alleleid]",
        "alleleId": 265712,
        "preferredName": "NM_001875.5(CPS1):c.1030_1032delinsTCT (p.Thr344Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1003623[alleleid]",
        "alleleId": 1003623,
        "preferredName": "NM_001875.5(CPS1):c.1031C>G (p.Thr344Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281331",
        "RCV": [
          "RCV000275942",
          "RCV000396067"
        ],
        "variationId": 281331
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281475",
        "RCV": [
          "RCV000271134"
        ],
        "variationId": 281475
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1024215",
        "RCV": [
          "RCV001324372"
        ],
        "variationId": 1024215
      }
    ]
  },
  "type": "amino-acid"
}