{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390302558",
  "communityStandardTitle": [
    "NM_000021.4(PSEN1):c.129C>G (p.Ser43Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.73637546C>G?assembly=hg19",
        "id": "chr14:g.73637546C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.73170838C>G?assembly=hg38",
        "id": "chr14:g.73170838C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1594997980",
        "rs": 1594997980
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-73170838-C-G?dataset=gnomad_r4",
        "id": "14-73170838-C-G",
        "variant": "14:73170838 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 73170838,
          "referenceAllele": "C",
          "start": 73170837
        }
      ],
      "hgvs": [
        "NC_000014.9:g.73170838C>G",
        "CM000676.2:g.73170838C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 73637546,
          "referenceAllele": "C",
          "start": 73637545
        }
      ],
      "hgvs": [
        "NC_000014.8:g.73637546C>G",
        "CM000676.1:g.73637546C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 72707299,
          "referenceAllele": "C",
          "start": 72707298
        }
      ],
      "hgvs": [
        "NC_000014.7:g.72707299C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39368,
          "referenceAllele": "C",
          "start": 39367
        }
      ],
      "hgvs": [
        "NG_007386.2:g.39368C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000560"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553447.7:c.*73C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514869.1:n.*73C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905852"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553599.6:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452477.2:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000452477.2:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905856"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 393,
          "referenceAllele": "C",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554131.6:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451915.2:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000451915.2:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.6:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000450845.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556011.6:c.*73C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451662.2:n.*73C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556066.2:n.555C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556951.6:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450551.2:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000450551.2:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557293.6:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451880.2:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000451880.2:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 444,
          "referenceAllele": "C",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000559361.6:c.*73C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454156.1:n.*73C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697912.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513477.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000513477.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697913.1:n.383C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697914.1:n.341C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700265.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514901.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000514901.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700266.1:c.*218C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514902.1:n.*218C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 286,
          "referenceAllele": "C",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700267.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514903.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514903.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "referenceAllele": "C",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700268.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514904.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514904.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "C",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700269.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514905.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514905.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700270.1:n.385C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700271.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514906.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000514906.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700272.1:c.*73C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514907.1:n.*73C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 425,
          "referenceAllele": "C",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700273.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514908.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000514908.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700302.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514929.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514929.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700303.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514930.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000514930.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700304.1:c.*73C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514931.1:n.*73C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "C",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700305.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514932.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000514932.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700306.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514933.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514933.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 371,
          "referenceAllele": "C",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700307.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514934.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514934.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700308.1:c.*73C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514935.1:n.*73C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700309.1:c.*218C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514936.1:n.*218C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 329,
          "referenceAllele": "C",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700310.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514937.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000514937.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700311.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514938.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514938.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700312.1:c.-121C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514939.1:n.-121C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700313.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514940.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000514940.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700314.1:c.*68C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514941.1:n.*68C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700315.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514942.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514942.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911140"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700316.1:c.221C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514943.1:p.Ala74Gly",
        "hgvsWellDefined": "ENSP00000514943.1:p.Ala74Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700317.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514944.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514944.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700318.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514945.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514945.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700319.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514946.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514946.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700320.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514947.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514947.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "C",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700321.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514948.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514948.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700322.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514949.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000514949.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700323.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514950.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514950.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700324.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514951.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000514951.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700375.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514966.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514966.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700376.1:n.713C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700377.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514967.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514967.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700378.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514968.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514968.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700379.1:n.527C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700388.1:n.376C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700389.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514970.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000514970.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1840,
          "referenceAllele": "C",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700390.1:n.1840C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700404.1:n.1012C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700430.1:c.*73C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514985.1:n.*73C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 252,
          "referenceAllele": "C",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700431.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514986.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000514986.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700432.1:n.486C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 264,
          "referenceAllele": "C",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700433.1:n.264C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700434.1:n.382C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 264,
          "referenceAllele": "C",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700435.1:n.264C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 264,
          "referenceAllele": "C",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700436.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514987.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000514987.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700437.1:c.-121C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514988.1:n.-121C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 264,
          "referenceAllele": "C",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700467.1:n.264C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 252,
          "referenceAllele": "C",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700468.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515001.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000515001.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700469.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515002.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000515002.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.10:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000326366.5:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746639",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.129C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.129C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Ser43Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Ser43Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.9:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000326366.5:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000357710.8:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350342.4:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000350342.4:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000394157.7:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377712.3:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000377712.3:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "referenceAllele": "C",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000394164.5:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377719.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000377719.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000406768.1:c.-148C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385948.1:n.-148C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553447.6:n.526C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553599.5:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452477.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000452477.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553719.5:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451674.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000451674.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 129,
          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553855.5:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452242.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000452242.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 393,
          "referenceAllele": "C",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554131.5:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451915.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000451915.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555254.5:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450652.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000450652.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 117,
          "referenceAllele": "C",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.5:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000450845.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556066.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452267.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000452267.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556533.5:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452128.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000452128.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556864.5:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451588.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000451588.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372557"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556951.5:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450551.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000450551.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557037.5:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451347.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000451347.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557293.5:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451880.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000451880.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557356.5:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451498.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000451498.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372957"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 129,
          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557511.5:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451429.1:p.Ser43Arg",
        "hgvsWellDefined": "ENSP00000451429.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 444,
          "referenceAllele": "C",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000559361.5:c.*73C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454156.1:n.*73C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000560005.6:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453466.1:p.Ser39Arg",
        "hgvsWellDefined": "ENSP00000453466.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081450130",
      "coordinates": [
        {
          "allele": "G",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.3:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Ser43Arg",
        "hgvsWellDefined": "NP_000012.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.2:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Ser39Arg",
        "hgvsWellDefined": "NP_015557.2:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Ser43Arg",
        "hgvsWellDefined": "XP_005267921.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Ser39Arg",
        "hgvsWellDefined": "XP_005267923.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 305,
          "referenceAllele": "C",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536971.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535273.1:p.Ser43Arg",
        "hgvsWellDefined": "XP_011535273.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.1:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Ser43Arg",
        "hgvsWellDefined": "XP_011535274.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Ser39Arg",
        "hgvsWellDefined": "XP_011535275.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 298,
          "referenceAllele": "C",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.1:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Ser39Arg",
        "hgvsWellDefined": "XP_011535276.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.3:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Ser43Arg",
        "hgvsWellDefined": "XP_005267921.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.2:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Ser39Arg",
        "hgvsWellDefined": "XP_005267923.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.2:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Ser43Arg",
        "hgvsWellDefined": "XP_011535274.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.2:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Ser39Arg",
        "hgvsWellDefined": "XP_011535275.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.2:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Ser39Arg",
        "hgvsWellDefined": "XP_011535276.1:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081450130",
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.4:c.129C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Ser43Arg",
        "hgvsWellDefined": "NP_000012.1:p.Ser43Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.129C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.129C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Ser43Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Ser43Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 329,
          "referenceAllele": "C",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.3:c.117C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Ser39Arg",
        "hgvsWellDefined": "NP_015557.2:p.Ser39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696969"
    }
  ],
  "type": "nucleotide"
}