{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3969726",
  "communityStandardTitle": [
    "NM_013352.4(DSE):c.1897G>A (p.Val633Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5979251",
        "active": true,
        "id": "COSM5979251"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5979252",
        "active": true,
        "id": "COSM5979252"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443856[alleleid]",
        "alleleId": 443856,
        "preferredName": "NM_013352.4(DSE):c.1897G>A (p.Val633Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/450138",
        "RCV": [
          "RCV000522074",
          "RCV001490971"
        ],
        "variationId": 450138
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-116757528-G-A",
        "id": "6-116757528-G-A",
        "variant": "6:116757528 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.116757528G>A?assembly=hg19",
        "id": "chr6:g.116757528G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.116436365G>A?assembly=hg38",
        "id": "chr6:g.116436365G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/550208733",
        "rs": 550208733
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116757528-G-A?dataset=gnomad_r2_1",
        "id": "6-116757528-G-A",
        "variant": "6:116757528 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116436365-G-A?dataset=gnomad_r3",
        "id": "6-116436365-G-A",
        "variant": "6:116436365 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116436365-G-A?dataset=gnomad_r4",
        "id": "6-116436365-G-A",
        "variant": "6:116436365 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 116436365,
          "referenceAllele": "G",
          "start": 116436364
        }
      ],
      "hgvs": [
        "NC_000006.12:g.116436365G>A",
        "CM000668.2:g.116436365G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 116757528,
          "referenceAllele": "G",
          "start": 116757527
        }
      ],
      "hgvs": [
        "NC_000006.11:g.116757528G>A",
        "CM000668.1:g.116757528G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 116864221,
          "referenceAllele": "G",
          "start": 116864220
        }
      ],
      "hgvs": [
        "NC_000006.10:g.116864221G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 161246,
          "referenceAllele": "G",
          "start": 161245
        }
      ],
      "hgvs": [
        "NG_033266.1:g.161246G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 187214,
          "referenceAllele": "G",
          "start": 187213
        }
      ],
      "hgvs": [
        "NG_033266.3:g.187214G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 187195,
          "referenceAllele": "G",
          "start": 187194
        }
      ],
      "hgvs": [
        "NG_033266.4:g.187195G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733360"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1814,
          "referenceAllele": "G",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000359564.3:c.*762G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352567.3:n.*762G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000644252.3:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494147.2:p.Val633Met",
        "hgvsWellDefined": "ENSP00000494147.2:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644252.3:c.1897G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013352.4:c.1897G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494147.2:p.Val633Met"
          },
          "RefSeq": {
            "hgvs": "NP_037484.1:p.Val633Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "endIntronDirection": "+",
          "endIntronOffset": 5172,
          "referenceAllele": "G",
          "start": 766,
          "startIntronDirection": "+",
          "startIntronOffset": 5171
        }
      ],
      "hgvs": [
        "ENST00000644499.1:c.766+5172G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495266.1:n.766+5172G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1637,
          "referenceAllele": "G",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000646710.1:c.*762G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495970.1:n.*762G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "G",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000331677.7:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332151.2:p.Val633Met",
        "hgvsWellDefined": "ENSP00000332151.2:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000359564.2:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352567.2:p.Val633Met",
        "hgvsWellDefined": "ENSP00000352567.2:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2091,
          "referenceAllele": "G",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000452085.7:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404049.2:p.Val633Met",
        "hgvsWellDefined": "ENSP00000404049.2:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000606712.1:n.1801G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825474511",
      "coordinates": [
        {
          "allele": "A",
          "end": 2091,
          "referenceAllele": "G",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001080976.1:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074445.1:p.Val633Met",
        "hgvsWellDefined": "NP_001074445.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678999",
      "coordinates": [
        {
          "allele": "A",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_013352.2:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037484.1:p.Val633Met",
        "hgvsWellDefined": "NP_037484.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1483,
          "referenceAllele": "G",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "XM_011535785.1:c.862G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534087.1:p.Val288Met",
        "hgvsWellDefined": "XP_011534087.1:p.Val288Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102787"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825474511",
      "coordinates": [
        {
          "allele": "A",
          "end": 2148,
          "referenceAllele": "G",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001080976.2:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074445.1:p.Val633Met",
        "hgvsWellDefined": "NP_001074445.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179298",
      "coordinates": [
        {
          "allele": "A",
          "end": 2704,
          "referenceAllele": "G",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322937.1:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309866.1:p.Val633Met",
        "hgvsWellDefined": "NP_001309866.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179583",
      "coordinates": [
        {
          "allele": "A",
          "end": 2616,
          "referenceAllele": "G",
          "start": 2615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322938.1:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309867.1:p.Val633Met",
        "hgvsWellDefined": "NP_001309867.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026711",
      "coordinates": [
        {
          "allele": "A",
          "end": 2031,
          "referenceAllele": "G",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322939.1:c.1954G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309868.1:p.Val652Met",
        "hgvsWellDefined": "NP_001309868.1:p.Val652Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179937",
      "coordinates": [
        {
          "allele": "A",
          "end": 2700,
          "referenceAllele": "G",
          "start": 2699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322940.1:c.1336G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309869.1:p.Val446Met",
        "hgvsWellDefined": "NP_001309869.1:p.Val446Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515186"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827180144",
      "coordinates": [
        {
          "allele": "A",
          "end": 2198,
          "referenceAllele": "G",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322941.1:c.1336G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309870.1:p.Val446Met",
        "hgvsWellDefined": "NP_001309870.1:p.Val446Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "G",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322943.1:c.*762G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309872.1:n.*762G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1994,
          "referenceAllele": "G",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322944.1:c.*762G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309873.1:n.*762G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678999",
      "coordinates": [
        {
          "allele": "A",
          "end": 2202,
          "referenceAllele": "G",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_013352.3:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037484.1:p.Val633Met",
        "hgvsWellDefined": "NP_037484.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1936,
          "referenceAllele": "G",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NR_136524.1:n.1936G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "referenceAllele": "G",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "XM_017010795.1:c.1954G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866284.1:p.Val652Met",
        "hgvsWellDefined": "XP_016866284.1:p.Val652Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1958,
          "referenceAllele": "G",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "XM_017010796.1:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866285.1:p.Val633Met",
        "hgvsWellDefined": "XP_016866285.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2674,
          "referenceAllele": "G",
          "start": 2673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "XM_017010797.1:c.*762G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866286.1:n.*762G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825474511",
      "coordinates": [
        {
          "allele": "A",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001080976.3:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074445.1:p.Val633Met",
        "hgvsWellDefined": "NP_001074445.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179298",
      "coordinates": [
        {
          "allele": "A",
          "end": 2685,
          "referenceAllele": "G",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322937.2:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309866.1:p.Val633Met",
        "hgvsWellDefined": "NP_001309866.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179583",
      "coordinates": [
        {
          "allele": "A",
          "end": 2597,
          "referenceAllele": "G",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322938.2:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309867.1:p.Val633Met",
        "hgvsWellDefined": "NP_001309867.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026711",
      "coordinates": [
        {
          "allele": "A",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322939.2:c.1954G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309868.1:p.Val652Met",
        "hgvsWellDefined": "NP_001309868.1:p.Val652Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179937",
      "coordinates": [
        {
          "allele": "A",
          "end": 2681,
          "referenceAllele": "G",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322940.2:c.1336G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309869.1:p.Val446Met",
        "hgvsWellDefined": "NP_001309869.1:p.Val446Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827180144",
      "coordinates": [
        {
          "allele": "A",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322941.2:c.1336G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309870.1:p.Val446Met",
        "hgvsWellDefined": "NP_001309870.1:p.Val446Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1677,
          "referenceAllele": "G",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322943.2:c.*762G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309872.1:n.*762G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322944.2:c.*762G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309873.1:n.*762G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828527667",
      "coordinates": [
        {
          "allele": "A",
          "end": 2586,
          "referenceAllele": "G",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001374520.1:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361449.1:p.Val300Met",
        "hgvsWellDefined": "NP_001361449.1:p.Val300Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828527852",
      "coordinates": [
        {
          "allele": "A",
          "end": 2237,
          "referenceAllele": "G",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001374521.1:c.862G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361450.1:p.Val288Met",
        "hgvsWellDefined": "NP_001361450.1:p.Val288Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678999",
      "coordinates": [
        {
          "allele": "A",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_013352.4:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037484.1:p.Val633Met",
        "hgvsWellDefined": "NP_037484.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697117",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644252.3:c.1897G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013352.4:c.1897G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494147.2:p.Val633Met"
          },
          "RefSeq": {
            "hgvs": "NP_037484.1:p.Val633Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1913,
          "referenceAllele": "G",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NR_136524.2:n.1913G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703860"
    }
  ],
  "type": "nucleotide"
}