{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3969840",
  "communityStandardTitle": [
    "NM_013352.4(DSE):c.2601C>T (p.Tyr867=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=501386[alleleid]",
        "alleleId": 501386,
        "preferredName": "NM_013352.4(DSE):c.2601C>T (p.Tyr867=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/508454",
        "RCV": [
          "RCV000608370",
          "RCV002279400",
          "RCV003945480",
          "RCV002529484"
        ],
        "variationId": 508454
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-116758232-C-T",
        "id": "6-116758232-C-T",
        "variant": "6:116758232 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.116758232C>T?assembly=hg19",
        "id": "chr6:g.116758232C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.116437069C>T?assembly=hg38",
        "id": "chr6:g.116437069C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/535021192",
        "rs": 535021192
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116758232-C-T?dataset=gnomad_r2_1",
        "id": "6-116758232-C-T",
        "variant": "6:116758232 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116437069-C-T?dataset=gnomad_r3",
        "id": "6-116437069-C-T",
        "variant": "6:116437069 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-116437069-C-T?dataset=gnomad_r4",
        "id": "6-116437069-C-T",
        "variant": "6:116437069 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 116437069,
          "referenceAllele": "C",
          "start": 116437068
        }
      ],
      "hgvs": [
        "NC_000006.12:g.116437069C>T",
        "CM000668.2:g.116437069C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 116758232,
          "referenceAllele": "C",
          "start": 116758231
        }
      ],
      "hgvs": [
        "NC_000006.11:g.116758232C>T",
        "CM000668.1:g.116758232C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 116864925,
          "referenceAllele": "C",
          "start": 116864924
        }
      ],
      "hgvs": [
        "NC_000006.10:g.116864925C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 161950,
          "referenceAllele": "C",
          "start": 161949
        }
      ],
      "hgvs": [
        "NG_033266.1:g.161950C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 187918,
          "referenceAllele": "C",
          "start": 187917
        }
      ],
      "hgvs": [
        "NG_033266.3:g.187918C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 187899,
          "referenceAllele": "C",
          "start": 187898
        }
      ],
      "hgvs": [
        "NG_033266.4:g.187899C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733360"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2518,
          "referenceAllele": "C",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000359564.3:c.*1466C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352567.3:n.*1466C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2829,
          "referenceAllele": "C",
          "start": 2828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000644252.3:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494147.2:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644252.3:c.2601C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013352.4:c.2601C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494147.2:p.Tyr867="
          },
          "RefSeq": {
            "hgvs": "NP_037484.1:p.Tyr867="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 766,
          "endIntronDirection": "+",
          "endIntronOffset": 5876,
          "referenceAllele": "C",
          "start": 766,
          "startIntronDirection": "+",
          "startIntronOffset": 5875
        }
      ],
      "hgvs": [
        "ENST00000644499.1:c.766+5876C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495266.1:n.766+5876C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000646710.1:c.*1466C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495970.1:n.*1466C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3045,
          "referenceAllele": "C",
          "start": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000331677.7:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332151.2:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2829,
          "referenceAllele": "C",
          "start": 2828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000359564.2:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352567.2:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2795,
          "referenceAllele": "C",
          "start": 2794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000452085.7:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404049.2:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2505,
          "referenceAllele": "C",
          "start": 2504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "ENST00000606712.1:n.2505C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825474590",
      "coordinates": [
        {
          "allele": "T",
          "end": 2795,
          "referenceAllele": "C",
          "start": 2794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001080976.1:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074445.1:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829738570",
      "coordinates": [
        {
          "allele": "T",
          "end": 2829,
          "referenceAllele": "C",
          "start": 2828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_013352.2:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037484.1:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2187,
          "referenceAllele": "C",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "XM_011535785.1:c.1566C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534087.1:p.Tyr522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102787"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825474590",
      "coordinates": [
        {
          "allele": "T",
          "end": 2852,
          "referenceAllele": "C",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001080976.2:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074445.1:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179377",
      "coordinates": [
        {
          "allele": "T",
          "end": 3408,
          "referenceAllele": "C",
          "start": 3407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322937.1:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309866.1:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179663",
      "coordinates": [
        {
          "allele": "T",
          "end": 3320,
          "referenceAllele": "C",
          "start": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322938.1:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309867.1:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179822",
      "coordinates": [
        {
          "allele": "T",
          "end": 2735,
          "referenceAllele": "C",
          "start": 2734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322939.1:c.2658C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309868.1:p.Tyr886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827180016",
      "coordinates": [
        {
          "allele": "T",
          "end": 3404,
          "referenceAllele": "C",
          "start": 3403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322940.1:c.2040C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309869.1:p.Tyr680="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515186"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827180223",
      "coordinates": [
        {
          "allele": "T",
          "end": 2902,
          "referenceAllele": "C",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322941.1:c.2040C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309870.1:p.Tyr680="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "referenceAllele": "C",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322943.1:c.*1466C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309872.1:n.*1466C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322944.1:c.*1466C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309873.1:n.*1466C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829738570",
      "coordinates": [
        {
          "allele": "T",
          "end": 2906,
          "referenceAllele": "C",
          "start": 2905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_013352.3:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037484.1:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2640,
          "referenceAllele": "C",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NR_136524.1:n.2640C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3041,
          "referenceAllele": "C",
          "start": 3040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "XM_017010795.1:c.2658C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866284.1:p.Tyr886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2662,
          "referenceAllele": "C",
          "start": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "XM_017010796.1:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866285.1:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3378,
          "referenceAllele": "C",
          "start": 3377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "XM_017010797.1:c.*1466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866286.1:n.*1466C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825474590",
      "coordinates": [
        {
          "allele": "T",
          "end": 2829,
          "referenceAllele": "C",
          "start": 2828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001080976.3:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074445.1:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179377",
      "coordinates": [
        {
          "allele": "T",
          "end": 3389,
          "referenceAllele": "C",
          "start": 3388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322937.2:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309866.1:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179663",
      "coordinates": [
        {
          "allele": "T",
          "end": 3301,
          "referenceAllele": "C",
          "start": 3300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322938.2:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309867.1:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827179822",
      "coordinates": [
        {
          "allele": "T",
          "end": 2763,
          "referenceAllele": "C",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322939.2:c.2658C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309868.1:p.Tyr886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827180016",
      "coordinates": [
        {
          "allele": "T",
          "end": 3385,
          "referenceAllele": "C",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322940.2:c.2040C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309869.1:p.Tyr680="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827180223",
      "coordinates": [
        {
          "allele": "T",
          "end": 2825,
          "referenceAllele": "C",
          "start": 2824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322941.2:c.2040C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309870.1:p.Tyr680="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2381,
          "referenceAllele": "C",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322943.2:c.*1466C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309872.1:n.*1466C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2621,
          "referenceAllele": "C",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001322944.2:c.*1466C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309873.1:n.*1466C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828527747",
      "coordinates": [
        {
          "allele": "T",
          "end": 3290,
          "referenceAllele": "C",
          "start": 3289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001374520.1:c.1602C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361449.1:p.Tyr534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828527932",
      "coordinates": [
        {
          "allele": "T",
          "end": 2941,
          "referenceAllele": "C",
          "start": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_001374521.1:c.1566C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361450.1:p.Tyr522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829738570",
      "coordinates": [
        {
          "allele": "T",
          "end": 2829,
          "referenceAllele": "C",
          "start": 2828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NM_013352.4:c.2601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037484.1:p.Tyr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697117",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644252.3:c.2601C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013352.4:c.2601C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494147.2:p.Tyr867="
          },
          "RefSeq": {
            "hgvs": "NP_037484.1:p.Tyr867="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2617,
          "referenceAllele": "C",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NR_136524.2:n.2617C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703860"
    }
  ],
  "type": "nucleotide"
}