{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091184",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 233,
          "referenceAllele": "M",
          "start": 232
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      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_000021.3:c.697A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA390299690",
          "hgvs": "NM_000021.3:c.697A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146574"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103959[alleleid]",
        "alleleId": 103959,
        "preferredName": "NM_000021.4(PSEN1):c.697A>T (p.Met233Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2845352[alleleid]",
        "alleleId": 2845352,
        "preferredName": "NM_000021.4(PSEN1):c.697A>C (p.Met233Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98067",
        "RCV": [
          "RCV000084354"
        ],
        "variationId": 98067
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2684317",
        "RCV": [
          "RCV003482813"
        ],
        "variationId": 2684317
      }
    ]
  },
  "type": "amino-acid"
}