{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091181",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 146,
          "referenceAllele": "M",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NP_000012.1:p.Met146Ile"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA225023",
          "hgvs": "NM_000021.3:c.438G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA258121",
          "hgvs": "NM_000021.3:c.438G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA390305025",
          "hgvs": "NM_000021.3:c.438G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146574"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33176[alleleid]",
        "alleleId": 33176,
        "preferredName": "NM_000021.4(PSEN1):c.438G>A (p.Met146Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76318[alleleid]",
        "alleleId": 76318,
        "preferredName": "NM_000021.4(PSEN1):c.438G>C (p.Met146Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103921[alleleid]",
        "alleleId": 103921,
        "preferredName": "NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18137",
        "RCV": [
          "RCV000019767"
        ],
        "variationId": 18137
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98029",
        "RCV": [
          "RCV000084311",
          "RCV001854473"
        ],
        "variationId": 98029
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3233284",
        "RCV": [
          "RCV004525816"
        ],
        "variationId": 3233284
      }
    ]
  },
  "type": "amino-acid"
}