{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2146475493",
  "communityStandardTitle": [
    "NM_000021.4(PSEN1):c.767A= (p.Tyr256=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63751320",
        "rs": 63751320
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2502941299",
        "rs": 2502941299
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 73192862,
          "referenceAllele": "A",
          "start": 73192861
        }
      ],
      "hgvs": [
        "NC_000014.9:g.73192862A=",
        "CM000676.2:g.73192862A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 73659570,
          "referenceAllele": "A",
          "start": 73659569
        }
      ],
      "hgvs": [
        "NC_000014.8:g.73659570A=",
        "CM000676.1:g.73659570A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 72729323,
          "referenceAllele": "A",
          "start": 72729322
        }
      ],
      "hgvs": [
        "NC_000014.7:g.72729323A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61392,
          "referenceAllele": "A",
          "start": 61391
        }
      ],
      "hgvs": [
        "NG_007386.2:g.61392A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000560"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "A",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553599.6:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452477.2:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "referenceAllele": "A",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554131.6:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451915.2:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.6:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1193,
          "referenceAllele": "A",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556066.2:n.1193A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556951.6:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450551.2:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "endIntronDirection": "+",
          "endIntronOffset": 118,
          "referenceAllele": "A",
          "start": 927,
          "startIntronDirection": "+",
          "startIntronOffset": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557293.6:c.649+118A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451880.2:n.649+118A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1082,
          "referenceAllele": "A",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000559361.6:c.*711A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454156.1:n.*711A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697912.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513477.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "A",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697913.1:n.1021A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "referenceAllele": "A",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700265.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514901.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1385,
          "referenceAllele": "A",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700266.1:c.*979A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514902.1:n.*979A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "A",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700267.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514903.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1043,
          "referenceAllele": "A",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700268.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514904.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700269.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514905.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700270.1:n.1023A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700271.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514906.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1161,
          "referenceAllele": "A",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700272.1:c.*711A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514907.1:n.*711A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1063,
          "referenceAllele": "A",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700273.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514908.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1033,
          "referenceAllele": "A",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700302.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514929.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1046,
          "referenceAllele": "A",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700303.1:c.*429A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514930.1:n.*429A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1155,
          "referenceAllele": "A",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700304.1:c.*711A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514931.1:n.*711A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1135,
          "referenceAllele": "A",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700305.1:c.*325A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514932.1:n.*325A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1056,
          "referenceAllele": "A",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700306.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514933.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "A",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700307.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514934.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "A",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700308.1:c.*711A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514935.1:n.*711A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1202,
          "referenceAllele": "A",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700309.1:c.*856A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514936.1:n.*856A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700310.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514937.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700311.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514938.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "A",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700312.1:c.518A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514939.1:p.Tyr173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700313.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514940.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700314.1:c.*706A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514941.1:n.*706A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1101,
          "referenceAllele": "A",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700315.1:c.*325A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514942.1:n.*325A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "A",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700316.1:c.*547A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514943.1:n.*547A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 947,
          "referenceAllele": "A",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700317.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514944.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700318.1:c.*429A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514945.1:n.*429A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700319.1:c.*207A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514946.1:n.*207A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 979,
          "referenceAllele": "A",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700320.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514947.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 981,
          "referenceAllele": "A",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700321.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514948.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "referenceAllele": "A",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700322.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514949.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700323.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514950.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "referenceAllele": "A",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700324.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514951.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "A",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700375.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514966.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "A",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700376.1:n.1351A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "referenceAllele": "A",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700377.1:c.*235A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514967.1:n.*235A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "A",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700378.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514968.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "referenceAllele": "A",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700379.1:n.1165A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1014,
          "referenceAllele": "A",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700388.1:n.1014A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1167,
          "referenceAllele": "A",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700389.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514970.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2478,
          "referenceAllele": "A",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700390.1:n.2478A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700404.1:n.1766A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "A",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700432.1:n.1124A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "referenceAllele": "A",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700433.1:n.1018A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700434.1:n.1020A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 902,
          "referenceAllele": "A",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700435.1:n.902A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 902,
          "referenceAllele": "A",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700436.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514987.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 894,
          "referenceAllele": "A",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700437.1:c.518A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514988.1:p.Tyr173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "referenceAllele": "A",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700467.1:n.1024A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700468.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515001.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "referenceAllele": "A",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700469.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515002.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 979,
          "referenceAllele": "A",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.10:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746639",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.767A="
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.767A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Tyr256="
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Tyr256="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1039,
          "referenceAllele": "A",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.9:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1027,
          "referenceAllele": "A",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000357710.8:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350342.4:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1297,
          "referenceAllele": "A",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000394164.5:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377719.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2313,
          "referenceAllele": "A",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000406768.1:c.491A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385948.1:p.Tyr164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "referenceAllele": "A",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553855.5:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452242.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "referenceAllele": "A",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.5:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "referenceAllele": "A",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557511.5:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451429.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373091"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825005034",
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "referenceAllele": "A",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.3:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006086"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714183",
      "coordinates": [
        {
          "allele": "A",
          "end": 1039,
          "referenceAllele": "A",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.2:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "A",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 943,
          "referenceAllele": "A",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536971.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535273.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1307,
          "referenceAllele": "A",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.1:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "A",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 936,
          "referenceAllele": "A",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.1:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.3:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.2:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1307,
          "referenceAllele": "A",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.2:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "A",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.2:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.2:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825005034",
      "coordinates": [
        {
          "allele": "A",
          "end": 979,
          "referenceAllele": "A",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.4:c.767A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Tyr256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.767A="
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.767A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Tyr256="
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Tyr256="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714183",
      "coordinates": [
        {
          "allele": "A",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.3:c.755A="
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Tyr252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696969"
    }
  ],
  "type": "nucleotide"
}