{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2146470783",
  "communityStandardTitle": [
    "NM_000021.4(PSEN1):c.339-196T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1391407487",
        "rs": 1391407487
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 73173370,
          "referenceAllele": "T",
          "start": 73173369
        }
      ],
      "hgvs": [
        "NC_000014.9:g.73173370T=",
        "CM000676.2:g.73173370T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 73640078,
          "referenceAllele": "T",
          "start": 73640077
        }
      ],
      "hgvs": [
        "NC_000014.8:g.73640078T=",
        "CM000676.1:g.73640078T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 72709831,
          "referenceAllele": "T",
          "start": 72709830
        }
      ],
      "hgvs": [
        "NC_000014.7:g.72709831T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41900,
          "referenceAllele": "T",
          "start": 41899
        }
      ],
      "hgvs": [
        "NG_007386.2:g.41900T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000560"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 735,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553447.7:c.*283-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514869.1:n.*283-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 642,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553599.6:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452477.2:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 602,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554131.6:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451915.2:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 594,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.6:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 782,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556011.6:c.*283-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451662.2:n.*283-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556066.2:n.765-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 605,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556951.6:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450551.2:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 616,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557293.6:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451880.2:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 653,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000559361.6:c.*283-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454156.1:n.*283-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 594,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697912.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513477.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 592,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697913.1:n.593-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700265.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514901.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 833,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 833,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700266.1:c.*428-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514902.1:n.*428-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 495,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700267.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514903.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 614,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700268.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514904.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700269.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514905.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 594,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700270.1:n.595-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 594,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700271.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514906.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 732,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700272.1:c.*283-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514907.1:n.*283-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911099"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 634,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700273.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514908.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 604,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700302.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514929.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "endIntronDirection": "-",
          "endIntronOffset": 170,
          "referenceAllele": "T",
          "start": 592,
          "startIntronDirection": "-",
          "startIntronOffset": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700303.1:c.327-171T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514930.1:n.327-171T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 726,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700304.1:c.*283-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514931.1:n.*283-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700305.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514932.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 627,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700306.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514933.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 580,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700307.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514934.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 688,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 688,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700308.1:c.*283-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514935.1:n.*283-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 773,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700309.1:c.*428-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514936.1:n.*428-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 538,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 538,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700310.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514937.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700311.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514938.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 450,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700312.1:c.90-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514939.1:n.90-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700313.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514940.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 636,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700314.1:c.*278-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514941.1:n.*278-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 550,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700315.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514942.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 642,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700316.1:c.*119-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514943.1:n.*119-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 518,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700317.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514944.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "endIntronDirection": "-",
          "endIntronOffset": 170,
          "referenceAllele": "T",
          "start": 550,
          "startIntronDirection": "-",
          "startIntronOffset": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700318.1:c.339-171T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514945.1:n.339-171T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 550,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700319.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514946.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 550,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700320.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514947.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 552,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700321.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514948.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 504,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700322.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514949.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 594,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700323.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514950.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 556,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700324.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514951.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 613,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700375.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514966.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 922,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 922,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700376.1:n.923-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 934,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700377.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514967.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 934,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700378.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514968.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 736,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 736,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700379.1:n.737-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 585,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700388.1:n.586-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700389.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514970.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2049,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 2049,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700390.1:n.2050-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1221,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 1221,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700404.1:n.1222-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 603,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700430.1:c.*283-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514985.1:n.*283-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 461,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700431.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514986.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 695,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 695,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700432.1:n.696-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700433.1:n.474-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700434.1:n.592-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700435.1:n.474-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700436.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514987.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 465,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700437.1:c.90-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514988.1:n.90-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700467.1:n.474-196T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 461,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700468.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515001.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 467,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700469.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515002.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 550,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.10:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746639",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.339-196T="
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.339-196T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:n.339-196T="
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:n.339-196T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 610,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.9:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 598,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000357710.8:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350342.4:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 610,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000394157.7:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377712.3:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 868,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 868,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000394164.5:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377719.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1884,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 1884,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000406768.1:c.63-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385948.1:n.63-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 597,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553719.5:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451674.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 338,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553855.5:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452242.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555254.5:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450652.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 326,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.5:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 492,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557356.5:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451498.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 338,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557511.5:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451429.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 653,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000559361.5:c.*283-196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454156.1:n.*283-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 622,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.3:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 610,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.2:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 616,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 605,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536971.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535273.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.1:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 866,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 866,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 507,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.1:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 608,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.3:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 605,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.2:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.2:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 866,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 866,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.2:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 502,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.2:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 550,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.4:c.339-196T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:n.339-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.339-196T="
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.339-196T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:n.339-196T="
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:n.339-196T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 538,
          "endIntronDirection": "-",
          "endIntronOffset": 195,
          "referenceAllele": "T",
          "start": 538,
          "startIntronDirection": "-",
          "startIntronOffset": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.3:c.327-196T="
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:n.327-196T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696969"
    }
  ],
  "type": "nucleotide"
}