{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA225525",
  "communityStandardTitle": [
    "NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33180[alleleid]",
        "alleleId": 33180,
        "preferredName": "NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18141",
        "RCV": [
          "RCV000019771",
          "RCV000084588"
        ],
        "variationId": 18141
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.73685893_73685894delinsTG?assembly=hg19",
        "id": "chr14:g.73685893_73685894delinsTG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.73219185_73219186delinsTG?assembly=hg38",
        "id": "chr14:g.73219185_73219186delinsTG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281875357",
        "rs": 281875357
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "TG",
          "end": 73219186,
          "referenceAllele": "GC",
          "start": 73219184
        }
      ],
      "hgvs": [
        "NC_000014.9:g.73219185_73219186delinsTG",
        "CM000676.2:g.73219185_73219186delinsTG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "TG",
          "end": 73685894,
          "referenceAllele": "GC",
          "start": 73685892
        }
      ],
      "hgvs": [
        "NC_000014.8:g.73685893_73685894delinsTG",
        "CM000676.1:g.73685893_73685894delinsTG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "TG",
          "end": 72755647,
          "referenceAllele": "GC",
          "start": 72755645
        }
      ],
      "hgvs": [
        "NC_000014.7:g.72755646_72755647delinsTG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 87716,
          "referenceAllele": "GC",
          "start": 87714
        }
      ],
      "hgvs": [
        "NG_007386.2:g.87715_87716delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000560"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1605,
          "referenceAllele": "GC",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000553599.6:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452477.2:p.Ala430Cys",
        "hgvsWellDefined": "ENSP00000452477.2:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905856"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1565,
          "referenceAllele": "GC",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554131.6:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451915.2:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000451915.2:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905859"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 2051,
          "referenceAllele": "GC",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000554995.2:n.2050_2051delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905863"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1649,
          "referenceAllele": "GC",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.6:c.*255_*256delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:n.*255_*256delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905866"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1727,
          "referenceAllele": "GC",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556066.2:n.1726_1727delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905873"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1568,
          "referenceAllele": "GC",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000556951.6:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450551.2:p.Ala430Cys",
        "hgvsWellDefined": "ENSP00000450551.2:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905881"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1459,
          "referenceAllele": "GC",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557293.6:c.1180_1181delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451880.2:p.Ala394Cys",
        "hgvsWellDefined": "ENSP00000451880.2:p.Ala394Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905886"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1616,
          "referenceAllele": "GC",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000559361.6:c.*1244_*1245delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454156.1:n.*1244_*1245delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905908"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1897,
          "referenceAllele": "GC",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697912.1:c.*488_*489delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513477.1:n.*488_*489delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909070"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 6851,
          "referenceAllele": "GC",
          "start": 6849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697913.1:n.6850_6851delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909071"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 658,
          "referenceAllele": "GC",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000697915.1:n.657_658delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909073"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1417,
          "referenceAllele": "GC",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700265.1:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514901.1:p.Ala430Cys",
        "hgvsWellDefined": "ENSP00000514901.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911092"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1919,
          "referenceAllele": "GC",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700266.1:c.*1512_*1513delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514902.1:n.*1512_*1513delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911093"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1458,
          "referenceAllele": "GC",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700267.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514903.1:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000514903.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911094"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1577,
          "referenceAllele": "GC",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700268.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514904.1:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000514904.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911095"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1617,
          "referenceAllele": "GC",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700269.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514905.1:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000514905.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911096"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1383,
          "referenceAllele": "GC",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700271.1:c.1114_1115delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514906.1:p.Ala372Cys",
        "hgvsWellDefined": "ENSP00000514906.1:p.Ala372Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911098"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1695,
          "referenceAllele": "GC",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700272.1:c.*1244_*1245delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514907.1:n.*1244_*1245delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911099"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1597,
          "referenceAllele": "GC",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700273.1:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514908.1:p.Ala430Cys",
        "hgvsWellDefined": "ENSP00000514908.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911100"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1610,
          "referenceAllele": "GC",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700302.1:c.*116_*117delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514929.1:n.*116_*117delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911127"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1580,
          "referenceAllele": "GC",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700303.1:c.*962_*963delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514930.1:n.*962_*963delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911128"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1689,
          "referenceAllele": "GC",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700304.1:c.*1244_*1245delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514931.1:n.*1244_*1245delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911129"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1669,
          "referenceAllele": "GC",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700305.1:c.*858_*859delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514932.1:n.*858_*859delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911130"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1590,
          "referenceAllele": "GC",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700306.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514933.1:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000514933.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911131"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1444,
          "referenceAllele": "GC",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700307.1:c.1201_1202delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514934.1:p.Ala401Cys",
        "hgvsWellDefined": "ENSP00000514934.1:p.Ala401Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911132"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1651,
          "referenceAllele": "GC",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700308.1:c.*1244_*1245delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514935.1:n.*1244_*1245delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911133"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1736,
          "referenceAllele": "GC",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700309.1:c.*1389_*1390delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514936.1:n.*1389_*1390delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911134"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1494,
          "referenceAllele": "GC",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700310.1:c.*255_*256delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514937.1:n.*255_*256delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911135"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1597,
          "referenceAllele": "GC",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700311.1:c.*116_*117delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514938.1:n.*116_*117delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911136"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1413,
          "referenceAllele": "GC",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700312.1:c.1051_1052delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514939.1:p.Ala351Cys",
        "hgvsWellDefined": "ENSP00000514939.1:p.Ala351Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911137"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1538,
          "referenceAllele": "GC",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700313.1:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514940.1:p.Ala430Cys",
        "hgvsWellDefined": "ENSP00000514940.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911138"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1599,
          "referenceAllele": "GC",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700314.1:c.*1239_*1240delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514941.1:n.*1239_*1240delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911139"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1635,
          "referenceAllele": "GC",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700315.1:c.*858_*859delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514942.1:n.*858_*859delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911140"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1605,
          "referenceAllele": "GC",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700316.1:c.*1080_*1081delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514943.1:n.*1080_*1081delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911141"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1481,
          "referenceAllele": "GC",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700317.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514944.1:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000514944.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911142"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1538,
          "referenceAllele": "GC",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700318.1:c.*962_*963delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514945.1:n.*962_*963delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911143"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1445,
          "referenceAllele": "GC",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700319.1:c.*740_*741delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514946.1:n.*740_*741delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911144"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1540,
          "referenceAllele": "GC",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700320.1:c.1327_1328delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514947.1:p.Ala443Cys",
        "hgvsWellDefined": "ENSP00000514947.1:p.Ala443Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911145"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1515,
          "referenceAllele": "GC",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700321.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514948.1:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000514948.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911146"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1467,
          "referenceAllele": "GC",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700322.1:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514949.1:p.Ala430Cys",
        "hgvsWellDefined": "ENSP00000514949.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911147"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1557,
          "referenceAllele": "GC",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700323.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514950.1:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000514950.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911148"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1519,
          "referenceAllele": "GC",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700324.1:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514951.1:p.Ala430Cys",
        "hgvsWellDefined": "ENSP00000514951.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911149"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "GC",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700375.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514966.1:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000514966.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911167"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 2013,
          "referenceAllele": "GC",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700377.1:c.*768_*769delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514967.1:n.*768_*769delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911169"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1897,
          "referenceAllele": "GC",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700378.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514968.1:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000514968.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911170"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1699,
          "referenceAllele": "GC",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700379.1:n.1698_1699delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911171"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1701,
          "referenceAllele": "GC",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700389.1:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514970.1:p.Ala430Cys",
        "hgvsWellDefined": "ENSP00000514970.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911174"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 3012,
          "referenceAllele": "GC",
          "start": 3010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700390.1:n.3011_3012delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911175"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 512,
          "referenceAllele": "GC",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700391.1:n.511_512delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911176"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 2300,
          "referenceAllele": "GC",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700404.1:n.2299_2300delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911189"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1528,
          "referenceAllele": "GC",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700436.1:c.*255_*256delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514987.1:n.*255_*256delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911217"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1428,
          "referenceAllele": "GC",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700437.1:c.1051_1052delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514988.1:p.Ala351Cys",
        "hgvsWellDefined": "ENSP00000514988.1:p.Ala351Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911218"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1325,
          "referenceAllele": "GC",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700468.1:c.1189_1190delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515001.1:p.Ala397Cys",
        "hgvsWellDefined": "ENSP00000515001.1:p.Ala397Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911228"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1430,
          "referenceAllele": "GC",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000700469.1:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515002.1:p.Ala430Cys",
        "hgvsWellDefined": "ENSP00000515002.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911229"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1513,
          "referenceAllele": "GC",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.10:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000326366.5:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746639",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.1300_1301delinsTG"
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.1300_1301delinsTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Ala434Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Ala434Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1573,
          "referenceAllele": "GC",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000324501.9:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326366.5:p.Ala434Cys",
        "hgvsWellDefined": "ENSP00000326366.5:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258358"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1561,
          "referenceAllele": "GC",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000357710.8:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350342.4:p.Ala430Cys",
        "hgvsWellDefined": "ENSP00000350342.4:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264203"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1831,
          "referenceAllele": "GC",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000394164.5:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377719.1:p.Ala430Cys",
        "hgvsWellDefined": "ENSP00000377719.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276020"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 2847,
          "referenceAllele": "GC",
          "start": 2845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000406768.1:c.1024_1025delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385948.1:p.Ala342Cys",
        "hgvsWellDefined": "ENSP00000385948.1:p.Ala342Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280729"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1381,
          "referenceAllele": "GC",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555386.5:c.1380_1381delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450845.1:n.1380_1381delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371393"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 666,
          "referenceAllele": "GC",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000555867.1:n.665_666delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371781"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1127,
          "referenceAllele": "GC",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "ENST00000557511.5:c.1126_1127delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451429.1:p.Ala376Cys",
        "hgvsWellDefined": "ENSP00000451429.1:p.Ala376Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373091"
    },
    {
      "@id": "http://reg.genome.network/allele/PA225526",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1585,
          "referenceAllele": "GC",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.3:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Ala434Cys",
        "hgvsWellDefined": "NP_000012.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006086"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714344",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1573,
          "referenceAllele": "GC",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.2:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Ala430Cys",
        "hgvsWellDefined": "NP_015557.2:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032224"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1579,
          "referenceAllele": "GC",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Ala434Cys",
        "hgvsWellDefined": "XP_005267921.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065537"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1568,
          "referenceAllele": "GC",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.1:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Ala430Cys",
        "hgvsWellDefined": "XP_005267923.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065538"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1477,
          "referenceAllele": "GC",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536971.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535273.1:p.Ala434Cys",
        "hgvsWellDefined": "XP_011535273.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103942"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1841,
          "referenceAllele": "GC",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.1:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Ala434Cys",
        "hgvsWellDefined": "XP_011535274.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103943"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1829,
          "referenceAllele": "GC",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.1:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Ala430Cys",
        "hgvsWellDefined": "XP_011535275.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103944"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1470,
          "referenceAllele": "GC",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.1:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Ala430Cys",
        "hgvsWellDefined": "XP_011535276.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103945"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1571,
          "referenceAllele": "GC",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267864.3:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267921.1:p.Ala434Cys",
        "hgvsWellDefined": "XP_005267921.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536476"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1568,
          "referenceAllele": "GC",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_005267866.2:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267923.1:p.Ala430Cys",
        "hgvsWellDefined": "XP_005267923.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536477"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1841,
          "referenceAllele": "GC",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536972.2:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535274.1:p.Ala434Cys",
        "hgvsWellDefined": "XP_011535274.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552699"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1829,
          "referenceAllele": "GC",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536973.2:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535275.1:p.Ala430Cys",
        "hgvsWellDefined": "XP_011535275.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552700"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1465,
          "referenceAllele": "GC",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.2:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535276.1:p.Ala430Cys",
        "hgvsWellDefined": "XP_011535276.1:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA225526",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1513,
          "referenceAllele": "GC",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_000021.4:c.1300_1301delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000012.1:p.Ala434Cys",
        "hgvsWellDefined": "NP_000012.1:p.Ala434Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324501.10:c.1300_1301delinsTG"
          },
          "RefSeq": {
            "hgvs": "NM_000021.4:c.1300_1301delinsTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326366.5:p.Ala434Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000012.1:p.Ala434Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714344",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1501,
          "referenceAllele": "GC",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NM_007318.3:c.1288_1289delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_015557.2:p.Ala430Cys",
        "hgvsWellDefined": "NP_015557.2:p.Ala430Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696969"
    }
  ],
  "type": "nucleotide"
}