{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10914568",
  "communityStandardTitle": [
    "NM_000447.3(PSEN2):c.-21+420T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.227063671T>C?assembly=hg19",
        "id": "chr1:g.227063671T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.226875970T>C?assembly=hg38",
        "id": "chr1:g.226875970T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2073489",
        "rs": 2073489
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-227063671-T-C?dataset=gnomad_r2_1",
        "id": "1-227063671-T-C",
        "variant": "1:227063671 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-226875970-T-C?dataset=gnomad_r3",
        "id": "1-226875970-T-C",
        "variant": "1:226875970 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-226875970-T-C?dataset=gnomad_r4",
        "id": "1-226875970-T-C",
        "variant": "1:226875970 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 226875970,
          "referenceAllele": "T",
          "start": 226875969
        }
      ],
      "hgvs": [
        "NC_000001.11:g.226875970T>C",
        "CM000663.2:g.226875970T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 227063671,
          "referenceAllele": "T",
          "start": 227063670
        }
      ],
      "hgvs": [
        "NC_000001.10:g.227063671T>C",
        "CM000663.1:g.227063671T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 225130294,
          "referenceAllele": "T",
          "start": 225130293
        }
      ],
      "hgvs": [
        "NC_000001.9:g.225130294T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10399,
          "referenceAllele": "T",
          "start": 10398
        }
      ],
      "hgvs": [
        "NG_007381.1:g.10399T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10787,
          "referenceAllele": "T",
          "start": 10786
        }
      ],
      "hgvs": [
        "NG_007381.2:g.10787T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733309"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "hgvs": [
        "ENST00000366779.6:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355741.2:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000366782.6:c.-277+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355746.2:n.-277+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000366783.8:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355747.3:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749852",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366783.8:c.-21+420T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000447.3:c.-21+420T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355747.3:n.-21+420T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000438.2:n.-21+420T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000524196.6:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429036.2:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 824,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000676467.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504294.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 232,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 232,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000676747.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503244.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 407,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000676840.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504318.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "hgvs": [
        "ENST00000676884.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503200.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000676888.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504483.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000676907.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504410.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000676945.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504433.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 268,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 268,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000677414.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503116.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000677529.1:n.418+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 352,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000677596.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503618.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000677599.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503673.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000677748.1:n.418+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000677880.1:c.-154+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503121.1:n.-154+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 367,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000678021.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504674.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000678233.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504728.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000678320.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503680.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777968"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000678655.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504230.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778295"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000678706.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503659.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 537,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000678776.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504624.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 407,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000678784.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504652.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000678820.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504138.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 462,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 462,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000678835.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504343.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000679088.1:c.-1469+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504727.1:n.-1469+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000679098.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504303.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000366782.5:c.-178+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355746.1:n.-178+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 416,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 416,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000366783.7:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355747.3:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 359,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000422240.6:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403737.2:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 327,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000460775.5:c.-22+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427912.1:n.-22+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 220,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000495488.5:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429682.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "ENST00000524196.5:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429036.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 407,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "NM_000447.2:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000438.2:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 407,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "NM_012486.2:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036618.2:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 220,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XM_005273199.2:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273256.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 329,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 329,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XM_011544236.1:c.-77+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542538.1:n.-77+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 407,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XR_949149.1:n.407+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 407,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XR_949150.1:n.407+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 220,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XM_005273199.4:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273256.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 728,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XM_017001835.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857324.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557903"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 220,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XM_017001836.1:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857325.1:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557904"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XR_001737316.2:n.385+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XR_001737317.2:n.385+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XR_001737318.2:n.385+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 728,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XR_001737319.1:n.728+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 728,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XR_001737320.1:n.728+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 220,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XR_001737321.1:n.220+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XR_949149.2:n.385+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "XR_949150.3:n.385+420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "NM_000447.3:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000438.2:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662449",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366783.8:c.-21+420T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000447.3:c.-21+420T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355747.3:n.-21+420T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000438.2:n.-21+420T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 420,
          "referenceAllele": "T",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009509",
      "geneNCBI_id": 5664,
      "geneSymbol": "PSEN2",
      "hgvs": [
        "NM_012486.3:c.-21+420T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036618.2:n.-21+420T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727881"
    }
  ],
  "type": "nucleotide"
}