{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390306079",
  "communityStandardTitle": [
    "NM_000021.4(PSEN1):c.1311C>G (p.Ile437Met)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.73685904C>G?assembly=hg19",
        "id": "chr14:g.73685904C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.73219196C>G?assembly=hg38",
        "id": "chr14:g.73219196C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 73219196,
          "referenceAllele": "C",
          "start": 73219195
        }
      ],
      "hgvs": [
        "NC_000014.9:g.73219196C>G",
        "CM000676.2:g.73219196C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 73685904,
          "referenceAllele": "C",
          "start": 73685903
        }
      ],
      "hgvs": [
        "NC_000014.8:g.73685904C>G",
        "CM000676.1:g.73685904C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 72755657,
          "referenceAllele": "C",
          "start": 72755656
        }
      ],
      "hgvs": [
        "NC_000014.7:g.72755657C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87726,
          "referenceAllele": "C",
          "start": 87725
        }
      ],
      "hgvs": [
        "NG_007386.2:g.87726C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000560"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553599.6:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452477.2:p.Ile433Met",
        "hgvsWellDefined": "ENSP00000452477.2:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905856"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554131.6:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451915.2:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000451915.2:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2061,
          "referenceAllele": "C",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554995.2:n.2061C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1659,
          "referenceAllele": "C",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.6:c.*266C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:n.*266C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556066.2:n.1737C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556951.6:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450551.2:p.Ile433Met",
        "hgvsWellDefined": "ENSP00000450551.2:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1469,
          "referenceAllele": "C",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557293.6:c.1191C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451880.2:p.Ile397Met",
        "hgvsWellDefined": "ENSP00000451880.2:p.Ile397Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1626,
          "referenceAllele": "C",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000559361.6:c.*1255C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454156.1:n.*1255C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697912.1:c.*499C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513477.1:n.*499C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6861,
          "referenceAllele": "C",
          "start": 6860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697913.1:n.6861C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697915.1:n.668C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700265.1:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514901.1:p.Ile433Met",
        "hgvsWellDefined": "ENSP00000514901.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1929,
          "referenceAllele": "C",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700266.1:c.*1523C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514902.1:n.*1523C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1468,
          "referenceAllele": "C",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700267.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514903.1:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000514903.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1587,
          "referenceAllele": "C",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700268.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514904.1:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000514904.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1627,
          "referenceAllele": "C",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700269.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514905.1:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000514905.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1393,
          "referenceAllele": "C",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700271.1:c.1125C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514906.1:p.Ile375Met",
        "hgvsWellDefined": "ENSP00000514906.1:p.Ile375Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1705,
          "referenceAllele": "C",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700272.1:c.*1255C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514907.1:n.*1255C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700273.1:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514908.1:p.Ile433Met",
        "hgvsWellDefined": "ENSP00000514908.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1620,
          "referenceAllele": "C",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700302.1:c.*127C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514929.1:n.*127C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700303.1:c.*973C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514930.1:n.*973C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700304.1:c.*1255C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514931.1:n.*1255C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700305.1:c.*869C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514932.1:n.*869C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700306.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514933.1:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000514933.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1454,
          "referenceAllele": "C",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700307.1:c.1212C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514934.1:p.Ile404Met",
        "hgvsWellDefined": "ENSP00000514934.1:p.Ile404Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1661,
          "referenceAllele": "C",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700308.1:c.*1255C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514935.1:n.*1255C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1746,
          "referenceAllele": "C",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700309.1:c.*1400C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514936.1:n.*1400C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1504,
          "referenceAllele": "C",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700310.1:c.*266C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514937.1:n.*266C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700311.1:c.*127C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514938.1:n.*127C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700312.1:c.1062C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514939.1:p.Ile354Met",
        "hgvsWellDefined": "ENSP00000514939.1:p.Ile354Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1548,
          "referenceAllele": "C",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700313.1:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514940.1:p.Ile433Met",
        "hgvsWellDefined": "ENSP00000514940.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700314.1:c.*1250C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514941.1:n.*1250C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1645,
          "referenceAllele": "C",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700315.1:c.*869C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514942.1:n.*869C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911140"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700316.1:c.*1091C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514943.1:n.*1091C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1491,
          "referenceAllele": "C",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700317.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514944.1:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000514944.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1548,
          "referenceAllele": "C",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700318.1:c.*973C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514945.1:n.*973C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700319.1:c.*751C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514946.1:n.*751C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "referenceAllele": "C",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700320.1:c.1338C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514947.1:p.Ile446Met",
        "hgvsWellDefined": "ENSP00000514947.1:p.Ile446Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700321.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514948.1:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000514948.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700322.1:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514949.1:p.Ile433Met",
        "hgvsWellDefined": "ENSP00000514949.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1567,
          "referenceAllele": "C",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700323.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514950.1:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000514950.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700324.1:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514951.1:p.Ile433Met",
        "hgvsWellDefined": "ENSP00000514951.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700375.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514966.1:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000514966.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2023,
          "referenceAllele": "C",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700377.1:c.*779C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514967.1:n.*779C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700378.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514968.1:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000514968.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700379.1:n.1709C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1711,
          "referenceAllele": "C",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700389.1:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514970.1:p.Ile433Met",
        "hgvsWellDefined": "ENSP00000514970.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3022,
          "referenceAllele": "C",
          "start": 3021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700390.1:n.3022C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700391.1:n.522C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2310,
          "referenceAllele": "C",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700404.1:n.2310C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1538,
          "referenceAllele": "C",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700436.1:c.*266C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514987.1:n.*266C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1438,
          "referenceAllele": "C",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700437.1:c.1062C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514988.1:p.Ile354Met",
        "hgvsWellDefined": "ENSP00000514988.1:p.Ile354Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700468.1:c.1200C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515001.1:p.Ile400Met",
        "hgvsWellDefined": "ENSP00000515001.1:p.Ile400Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1440,
          "referenceAllele": "C",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700469.1:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515002.1:p.Ile433Met",
        "hgvsWellDefined": "ENSP00000515002.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.10:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000326366.5:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746639",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.1311C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.1311C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Ile437Met"
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Ile437Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1583,
          "referenceAllele": "C",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.9:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Ile437Met",
        "hgvsWellDefined": "ENSP00000326366.5:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000357710.8:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350342.4:p.Ile433Met",
        "hgvsWellDefined": "ENSP00000350342.4:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000394164.5:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377719.1:p.Ile433Met",
        "hgvsWellDefined": "ENSP00000377719.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2857,
          "referenceAllele": "C",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000406768.1:c.1035C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385948.1:p.Ile345Met",
        "hgvsWellDefined": "ENSP00000385948.1:p.Ile345Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.5:c.1391C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:n.1391C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555867.1:n.676C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1137,
          "referenceAllele": "C",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557511.5:c.1137C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451429.1:p.Ile379Met",
        "hgvsWellDefined": "ENSP00000451429.1:p.Ile379Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.3:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Ile437Met",
        "hgvsWellDefined": "NP_000012.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1583,
          "referenceAllele": "C",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.2:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Ile433Met",
        "hgvsWellDefined": "NP_015557.2:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Ile437Met",
        "hgvsWellDefined": "XP_005267921.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.1:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Ile433Met",
        "hgvsWellDefined": "XP_005267923.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1487,
          "referenceAllele": "C",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536971.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535273.1:p.Ile437Met",
        "hgvsWellDefined": "XP_011535273.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "C",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.1:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Ile437Met",
        "hgvsWellDefined": "XP_011535274.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1839,
          "referenceAllele": "C",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.1:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Ile433Met",
        "hgvsWellDefined": "XP_011535275.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.1:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Ile433Met",
        "hgvsWellDefined": "XP_011535276.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1581,
          "referenceAllele": "C",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.3:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Ile437Met",
        "hgvsWellDefined": "XP_005267921.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.2:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Ile433Met",
        "hgvsWellDefined": "XP_005267923.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "C",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.2:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Ile437Met",
        "hgvsWellDefined": "XP_011535274.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1839,
          "referenceAllele": "C",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.2:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Ile433Met",
        "hgvsWellDefined": "XP_011535275.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.2:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Ile433Met",
        "hgvsWellDefined": "XP_011535276.1:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.4:c.1311C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Ile437Met",
        "hgvsWellDefined": "NP_000012.1:p.Ile437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.1311C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.1311C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Ile437Met"
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Ile437Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.3:c.1299C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Ile433Met",
        "hgvsWellDefined": "NP_015557.2:p.Ile433Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696969"
    }
  ],
  "type": "nucleotide"
}