{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390303072",
  "communityStandardTitle": [
    "NM_000021.4(PSEN1):c.228A>C (p.Lys76Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.73637645A>C?assembly=hg19",
        "id": "chr14:g.73637645A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.73170937A>C?assembly=hg38",
        "id": "chr14:g.73170937A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 73170937,
          "referenceAllele": "A",
          "start": 73170936
        }
      ],
      "hgvs": [
        "NC_000014.9:g.73170937A>C",
        "CM000676.2:g.73170937A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 73637645,
          "referenceAllele": "A",
          "start": 73637644
        }
      ],
      "hgvs": [
        "NC_000014.8:g.73637645A>C",
        "CM000676.1:g.73637645A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 72707398,
          "referenceAllele": "A",
          "start": 72707397
        }
      ],
      "hgvs": [
        "NC_000014.7:g.72707398A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39467,
          "referenceAllele": "A",
          "start": 39466
        }
      ],
      "hgvs": [
        "NG_007386.2:g.39467A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000560"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 625,
          "referenceAllele": "A",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553447.7:c.*172A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514869.1:n.*172A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553599.6:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452477.2:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000452477.2:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "A",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554131.6:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451915.2:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000451915.2:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "referenceAllele": "A",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.6:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000450845.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "referenceAllele": "A",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556011.6:c.*172A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451662.2:n.*172A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 654,
          "referenceAllele": "A",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556066.2:n.654A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556951.6:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450551.2:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000450551.2:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557293.6:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451880.2:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000451880.2:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000559361.6:c.*172A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454156.1:n.*172A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "referenceAllele": "A",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697912.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513477.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000513477.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 482,
          "referenceAllele": "A",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697913.1:n.482A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697914.1:n.440A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 344,
          "referenceAllele": "A",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700265.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514901.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000514901.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911092"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "A",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700266.1:c.*317A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514902.1:n.*317A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "referenceAllele": "A",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700267.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514903.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514903.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "referenceAllele": "A",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700268.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514904.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514904.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 544,
          "referenceAllele": "A",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700269.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514905.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514905.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "referenceAllele": "A",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700270.1:n.484A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "referenceAllele": "A",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700271.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514906.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000514906.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 622,
          "referenceAllele": "A",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700272.1:c.*172A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514907.1:n.*172A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 524,
          "referenceAllele": "A",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700273.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514908.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000514908.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 494,
          "referenceAllele": "A",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700302.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514929.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514929.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 482,
          "referenceAllele": "A",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700303.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514930.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000514930.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 616,
          "referenceAllele": "A",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700304.1:c.*172A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514931.1:n.*172A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 474,
          "referenceAllele": "A",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700305.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514932.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000514932.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "A",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700306.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514933.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514933.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 470,
          "referenceAllele": "A",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700307.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514934.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514934.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "referenceAllele": "A",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700308.1:c.*172A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514935.1:n.*172A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 663,
          "referenceAllele": "A",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700309.1:c.*317A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514936.1:n.*317A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700310.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514937.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000514937.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "A",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700311.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514938.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514938.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "A",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700312.1:c.-22A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514939.1:n.-22A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "referenceAllele": "A",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700313.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514940.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000514940.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 526,
          "referenceAllele": "A",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700314.1:c.*167A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514941.1:n.*167A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700315.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514942.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514942.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700316.1:c.*8A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514943.1:n.*8A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "A",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700317.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514944.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514944.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700318.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514945.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514945.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700319.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514946.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514946.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700320.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514947.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514947.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700321.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514948.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514948.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "referenceAllele": "A",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700322.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514949.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000514949.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "referenceAllele": "A",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700323.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514950.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514950.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "referenceAllele": "A",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700324.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514951.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000514951.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700375.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514966.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514966.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 812,
          "referenceAllele": "A",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700376.1:n.812A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "A",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700377.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514967.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514967.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "A",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700378.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514968.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514968.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 626,
          "referenceAllele": "A",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700379.1:n.626A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "A",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700388.1:n.475A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 628,
          "referenceAllele": "A",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700389.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514970.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000514970.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1939,
          "referenceAllele": "A",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700390.1:n.1939A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1111,
          "referenceAllele": "A",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700404.1:n.1111A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911189"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700430.1:c.*172A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514985.1:n.*172A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "referenceAllele": "A",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700431.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514986.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000514986.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 585,
          "referenceAllele": "A",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700432.1:n.585A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "A",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700433.1:n.363A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "A",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700434.1:n.481A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "A",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700435.1:n.363A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "A",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700436.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514987.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000514987.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "referenceAllele": "A",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700437.1:c.-22A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514988.1:n.-22A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "A",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700467.1:n.363A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "referenceAllele": "A",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700468.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515001.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000515001.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 357,
          "referenceAllele": "A",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700469.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515002.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000515002.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.10:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000326366.5:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746639",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.228A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.228A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Lys76Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Lys76Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "referenceAllele": "A",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.9:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000326366.5:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "A",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000357710.8:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350342.4:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000350342.4:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "referenceAllele": "A",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000394157.7:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377712.3:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000377712.3:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 758,
          "referenceAllele": "A",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000394164.5:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377719.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000377719.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1774,
          "referenceAllele": "A",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000406768.1:c.-49A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385948.1:n.-49A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553599.5:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452477.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000452477.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 487,
          "referenceAllele": "A",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553719.5:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451674.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000451674.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "A",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553855.5:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452242.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000452242.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "A",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554131.5:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451915.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000451915.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "referenceAllele": "A",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555254.5:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450652.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000450652.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371296"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216,
          "referenceAllele": "A",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.5:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000450845.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 489,
          "referenceAllele": "A",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556533.5:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452128.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000452128.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556951.5:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450551.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000450551.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557293.5:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451880.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000451880.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "referenceAllele": "A",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557356.5:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451498.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000451498.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "A",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557511.5:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451429.1:p.Lys76Asn",
        "hgvsWellDefined": "ENSP00000451429.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000559361.5:c.*172A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454156.1:n.*172A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "referenceAllele": "A",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000560005.6:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453466.1:p.Lys72Asn",
        "hgvsWellDefined": "ENSP00000453466.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.3:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Lys76Asn",
        "hgvsWellDefined": "NP_000012.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "referenceAllele": "A",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.2:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Lys72Asn",
        "hgvsWellDefined": "NP_015557.2:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Lys76Asn",
        "hgvsWellDefined": "XP_005267921.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Lys72Asn",
        "hgvsWellDefined": "XP_005267923.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 404,
          "referenceAllele": "A",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536971.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535273.1:p.Lys76Asn",
        "hgvsWellDefined": "XP_011535273.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "referenceAllele": "A",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.1:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Lys76Asn",
        "hgvsWellDefined": "XP_011535274.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "A",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Lys72Asn",
        "hgvsWellDefined": "XP_011535275.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "A",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.1:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Lys72Asn",
        "hgvsWellDefined": "XP_011535276.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 498,
          "referenceAllele": "A",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.3:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Lys76Asn",
        "hgvsWellDefined": "XP_005267921.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.2:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Lys72Asn",
        "hgvsWellDefined": "XP_005267923.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "referenceAllele": "A",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.2:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Lys76Asn",
        "hgvsWellDefined": "XP_011535274.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "A",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.2:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Lys72Asn",
        "hgvsWellDefined": "XP_011535275.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 392,
          "referenceAllele": "A",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.2:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Lys72Asn",
        "hgvsWellDefined": "XP_011535276.1:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.4:c.228A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Lys76Asn",
        "hgvsWellDefined": "NP_000012.1:p.Lys76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.228A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.228A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Lys76Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Lys76Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.3:c.216A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Lys72Asn",
        "hgvsWellDefined": "NP_015557.2:p.Lys72Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696969"
    }
  ],
  "type": "nucleotide"
}