{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA277020",
  "communityStandardTitle": [
    "NM_004456.5(EZH2):c.2187dup (p.Asp730Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=52999",
        "active": true,
        "id": "COSM52999"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3259622",
        "active": true,
        "id": "COSM3259622"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5802052",
        "active": true,
        "id": "COSM5802052"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5802053",
        "active": true,
        "id": "COSM5802053"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207471[alleleid]",
        "alleleId": 207471,
        "preferredName": "NM_004456.5(EZH2):c.2187dup (p.Asp730Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210967",
        "RCV": [
          "RCV000192778",
          "RCV001778781"
        ],
        "variationId": 210967
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.148506171dupA?assembly=hg19",
        "id": "chr7:g.148506171dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.148506170_148506171insA?assembly=hg19",
        "id": "chr7:g.148506170_148506171insA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.148809079dupA?assembly=hg38",
        "id": "chr7:g.148809079dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.148809078_148809079insA?assembly=hg38",
        "id": "chr7:g.148809078_148809079insA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797045568",
        "rs": 797045568
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-148809078-C-CA?dataset=gnomad_r3",
        "id": "7-148809078-C-CA",
        "variant": "7:148809078 C / CA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-148809078-C-CA?dataset=gnomad_r4",
        "id": "7-148809078-C-CA",
        "variant": "7:148809078 C / CA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 148809084,
          "referenceAllele": "",
          "start": 148809084
        }
      ],
      "hgvs": [
        "NC_000007.14:g.148809084dup",
        "CM000669.2:g.148809084dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 148506176,
          "referenceAllele": "",
          "start": 148506176
        }
      ],
      "hgvs": [
        "NC_000007.13:g.148506176dup",
        "CM000669.1:g.148506176dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 148137109,
          "referenceAllele": "",
          "start": 148137109
        }
      ],
      "hgvs": [
        "NC_000007.12:g.148137109dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80271,
          "referenceAllele": "",
          "start": 80271
        }
      ],
      "hgvs": [
        "NG_032043.1:g.80271dup",
        "LRG_531:g.80271dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005103"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "",
          "start": 4087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000682263.1:n.4087dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2250,
          "referenceAllele": "",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000682317.1:c.*1249dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508286.1:n.*1249dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000683292.1:c.*1083dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507503.1:n.*1083dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3906,
          "referenceAllele": "",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000683293.1:n.3906dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2412,
          "referenceAllele": "",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000683744.1:c.*1249dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506949.1:n.*1249dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2708,
          "referenceAllele": "",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000684300.1:c.*1249dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508407.1:n.*1249dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4174,
          "referenceAllele": "",
          "start": 4174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000684400.1:n.4174dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2503,
          "referenceAllele": "",
          "start": 2503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000684436.1:n.2503dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2565,
          "referenceAllele": "",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000684510.1:n.2565dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2322,
          "referenceAllele": "",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000320356.7:c.2187dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320147.2:p.Asp730Ter",
        "hgvsWellDefined": "ENSP00000320147.2:p.Asp730Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320356.7:c.2187dup"
          },
          "RefSeq": {
            "hgvs": "NM_004456.5:c.2187dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320147.2:p.Asp730Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004447.2:p.Asp730Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2309,
          "referenceAllele": "",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000320356.6:c.2187dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320147.2:p.Asp730Ter",
        "hgvsWellDefined": "ENSP00000320147.2:p.Asp730Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2147,
          "referenceAllele": "",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000350995.6:c.2055dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223193.2:p.Asp686Ter",
        "hgvsWellDefined": "ENSP00000223193.2:p.Asp686Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2261,
          "referenceAllele": "",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000460911.5:c.2172dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419711.1:p.Asp725Ter",
        "hgvsWellDefined": "ENSP00000419711.1:p.Asp725Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2339,
          "referenceAllele": "",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000476773.5:c.2019dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419050.1:p.Asp674Ter",
        "hgvsWellDefined": "ENSP00000419050.1:p.Asp674Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2191,
          "referenceAllele": "",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000478654.5:c.2019dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417062.1:p.Asp674Ter",
        "hgvsWellDefined": "ENSP00000417062.1:p.Asp674Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000483967.5:c.2145dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419856.1:p.Asp716Ter",
        "hgvsWellDefined": "ENSP00000419856.1:p.Asp716Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3309,
          "referenceAllele": "",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "ENST00000492143.5:c.*2177dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417377.1:n.*2177dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826263797",
      "coordinates": [
        {
          "allele": "T",
          "end": 2365,
          "referenceAllele": "",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NM_001203247.1:c.2172dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001190176.1:p.Asp725Ter",
        "hgvsWellDefined": "NP_001190176.1:p.Asp725Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826264125",
      "coordinates": [
        {
          "allele": "T",
          "end": 2338,
          "referenceAllele": "",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NM_001203248.1:c.2145dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001190177.1:p.Asp716Ter",
        "hgvsWellDefined": "NP_001190177.1:p.Asp716Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826264442",
      "coordinates": [
        {
          "allele": "T",
          "end": 2339,
          "referenceAllele": "",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NM_001203249.1:c.2019dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001190178.1:p.Asp674Ter",
        "hgvsWellDefined": "NP_001190178.1:p.Asp674Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915969838",
      "coordinates": [
        {
          "allele": "T",
          "end": 2380,
          "referenceAllele": "",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NM_004456.4:c.2187dup",
        "LRG_531t1:c.2187dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004447.2:p.Asp730Ter",
        "hgvsWellDefined": "NP_004447.2:p.Asp730Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830305483",
      "coordinates": [
        {
          "allele": "T",
          "end": 2248,
          "referenceAllele": "",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NM_152998.2:c.2055dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_694543.1:p.Asp686Ter",
        "hgvsWellDefined": "NP_694543.1:p.Asp686Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2257,
          "referenceAllele": "",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_005249962.3:c.2196dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250019.1:p.Asp733Ter",
        "hgvsWellDefined": "XP_005250019.1:p.Asp733Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2230,
          "referenceAllele": "",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_005249963.3:c.2169dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250020.1:p.Asp724Ter",
        "hgvsWellDefined": "XP_005250020.1:p.Asp724Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2104,
          "referenceAllele": "",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_005249964.3:c.2043dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250021.1:p.Asp682Ter",
        "hgvsWellDefined": "XP_005250021.1:p.Asp682Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2355,
          "referenceAllele": "",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515883.1:c.2211dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514185.1:p.Asp738Ter",
        "hgvsWellDefined": "XP_011514185.1:p.Asp738Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515884.1:c.2187dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514186.1:p.Asp730Ter",
        "hgvsWellDefined": "XP_011514186.1:p.Asp730Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2245,
          "referenceAllele": "",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515885.1:c.2184dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514187.1:p.Asp729Ter",
        "hgvsWellDefined": "XP_011514187.1:p.Asp729Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2504,
          "referenceAllele": "",
          "start": 2504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515886.1:c.2163dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514188.1:p.Asp722Ter",
        "hgvsWellDefined": "XP_011514188.1:p.Asp722Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2348,
          "referenceAllele": "",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515887.1:c.2160dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514189.1:p.Asp721Ter",
        "hgvsWellDefined": "XP_011514189.1:p.Asp721Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2475,
          "referenceAllele": "",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515888.1:c.2160dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514190.1:p.Asp721Ter",
        "hgvsWellDefined": "XP_011514190.1:p.Asp721Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2268,
          "referenceAllele": "",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515889.1:c.2121dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514191.1:p.Asp708Ter",
        "hgvsWellDefined": "XP_011514191.1:p.Asp708Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2155,
          "referenceAllele": "",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515890.1:c.2094dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514192.1:p.Asp699Ter",
        "hgvsWellDefined": "XP_011514192.1:p.Asp699Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2103,
          "referenceAllele": "",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515891.1:c.2088dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514193.1:p.Asp697Ter",
        "hgvsWellDefined": "XP_011514193.1:p.Asp697Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083099"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2146,
          "referenceAllele": "",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515892.1:c.2085dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514194.1:p.Asp696Ter",
        "hgvsWellDefined": "XP_011514194.1:p.Asp696Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2140,
          "referenceAllele": "",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515893.1:c.2079dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514195.1:p.Asp694Ter",
        "hgvsWellDefined": "XP_011514195.1:p.Asp694Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2205,
          "referenceAllele": "",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515894.1:c.2070dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514196.1:p.Asp691Ter",
        "hgvsWellDefined": "XP_011514196.1:p.Asp691Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "referenceAllele": "",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515895.1:c.2067dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514197.1:p.Asp690Ter",
        "hgvsWellDefined": "XP_011514197.1:p.Asp690Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2014,
          "referenceAllele": "",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515896.1:c.1953dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514198.1:p.Asp652Ter",
        "hgvsWellDefined": "XP_011514198.1:p.Asp652Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2531,
          "referenceAllele": "",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515897.1:c.1860dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514199.1:p.Asp621Ter",
        "hgvsWellDefined": "XP_011514199.1:p.Asp621Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "referenceAllele": "",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515898.1:c.1860dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514200.1:p.Asp621Ter",
        "hgvsWellDefined": "XP_011514200.1:p.Asp621Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "endIntronDirection": "+",
          "endIntronOffset": 3999,
          "referenceAllele": "",
          "start": 515,
          "startIntronDirection": "+",
          "startIntronOffset": 3999
        }
      ],
      "hgvs": [
        "XR_928101.1:n.515+3999dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 3999,
          "referenceAllele": "",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 3999
        }
      ],
      "hgvs": [
        "XR_928102.1:n.722+3999dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4806,
          "referenceAllele": "",
          "start": 4806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_005249962.4:c.2196dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250019.1:p.Asp733Ter",
        "hgvsWellDefined": "XP_005250019.1:p.Asp733Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4779,
          "referenceAllele": "",
          "start": 4779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_005249963.4:c.2169dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250020.1:p.Asp724Ter",
        "hgvsWellDefined": "XP_005250020.1:p.Asp724Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4654,
          "referenceAllele": "",
          "start": 4654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_005249964.4:c.2043dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250021.1:p.Asp682Ter",
        "hgvsWellDefined": "XP_005250021.1:p.Asp682Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2355,
          "referenceAllele": "",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515883.2:c.2211dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514185.1:p.Asp738Ter",
        "hgvsWellDefined": "XP_011514185.1:p.Asp738Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515884.2:c.2187dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514186.1:p.Asp730Ter",
        "hgvsWellDefined": "XP_011514186.1:p.Asp730Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4796,
          "referenceAllele": "",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515885.2:c.2184dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514187.1:p.Asp729Ter",
        "hgvsWellDefined": "XP_011514187.1:p.Asp729Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2504,
          "referenceAllele": "",
          "start": 2504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515886.2:c.2163dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514188.1:p.Asp722Ter",
        "hgvsWellDefined": "XP_011514188.1:p.Asp722Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2348,
          "referenceAllele": "",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515887.3:c.2160dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514189.1:p.Asp721Ter",
        "hgvsWellDefined": "XP_011514189.1:p.Asp721Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2475,
          "referenceAllele": "",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515888.2:c.2160dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514190.1:p.Asp721Ter",
        "hgvsWellDefined": "XP_011514190.1:p.Asp721Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2277,
          "referenceAllele": "",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515889.2:c.2121dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514191.1:p.Asp708Ter",
        "hgvsWellDefined": "XP_011514191.1:p.Asp708Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4706,
          "referenceAllele": "",
          "start": 4706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515890.2:c.2094dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514192.1:p.Asp699Ter",
        "hgvsWellDefined": "XP_011514192.1:p.Asp699Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2103,
          "referenceAllele": "",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515891.3:c.2088dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514193.1:p.Asp697Ter",
        "hgvsWellDefined": "XP_011514193.1:p.Asp697Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4698,
          "referenceAllele": "",
          "start": 4698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515892.2:c.2085dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514194.1:p.Asp696Ter",
        "hgvsWellDefined": "XP_011514194.1:p.Asp696Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4689,
          "referenceAllele": "",
          "start": 4689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515893.2:c.2079dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514195.1:p.Asp694Ter",
        "hgvsWellDefined": "XP_011514195.1:p.Asp694Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2205,
          "referenceAllele": "",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515894.2:c.2070dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514196.1:p.Asp691Ter",
        "hgvsWellDefined": "XP_011514196.1:p.Asp691Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4679,
          "referenceAllele": "",
          "start": 4679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515895.2:c.2067dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514197.1:p.Asp690Ter",
        "hgvsWellDefined": "XP_011514197.1:p.Asp690Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4564,
          "referenceAllele": "",
          "start": 4564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515896.2:c.1953dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514198.1:p.Asp652Ter",
        "hgvsWellDefined": "XP_011514198.1:p.Asp652Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2531,
          "referenceAllele": "",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515897.2:c.1860dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514199.1:p.Asp621Ter",
        "hgvsWellDefined": "XP_011514199.1:p.Asp621Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "referenceAllele": "",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_011515898.2:c.1860dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514200.1:p.Asp621Ter",
        "hgvsWellDefined": "XP_011514200.1:p.Asp621Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4823,
          "referenceAllele": "",
          "start": 4823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_017011817.2:c.2211dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867306.1:p.Asp738Ter",
        "hgvsWellDefined": "XP_016867306.1:p.Asp738Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2489,
          "referenceAllele": "",
          "start": 2489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_017011818.1:c.2148dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867307.1:p.Asp717Ter",
        "hgvsWellDefined": "XP_016867307.1:p.Asp717Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4681,
          "referenceAllele": "",
          "start": 4681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_017011819.1:c.2070dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867308.1:p.Asp691Ter",
        "hgvsWellDefined": "XP_016867308.1:p.Asp691Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2231,
          "referenceAllele": "",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_017011820.2:c.2043dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867309.1:p.Asp682Ter",
        "hgvsWellDefined": "XP_016867309.1:p.Asp682Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2516,
          "referenceAllele": "",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_017011821.1:c.1845dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867310.1:p.Asp616Ter",
        "hgvsWellDefined": "XP_016867310.1:p.Asp616Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2088,
          "referenceAllele": "",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XM_024446680.1:c.2073dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302448.1:p.Asp692Ter",
        "hgvsWellDefined": "XP_024302448.1:p.Asp692Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4561,
          "referenceAllele": "",
          "start": 4561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XR_001744581.1:n.4561dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5217,
          "referenceAllele": "",
          "start": 5217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XR_002956413.1:n.5217dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5677,
          "referenceAllele": "",
          "start": 5677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "XR_002956414.1:n.5677dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826263797",
      "coordinates": [
        {
          "allele": "T",
          "end": 2307,
          "referenceAllele": "",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NM_001203247.2:c.2172dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001190176.1:p.Asp725Ter",
        "hgvsWellDefined": "NP_001190176.1:p.Asp725Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826264125",
      "coordinates": [
        {
          "allele": "T",
          "end": 2280,
          "referenceAllele": "",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NM_001203248.2:c.2145dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001190177.1:p.Asp716Ter",
        "hgvsWellDefined": "NP_001190177.1:p.Asp716Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826264442",
      "coordinates": [
        {
          "allele": "T",
          "end": 2315,
          "referenceAllele": "",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NM_001203249.2:c.2019dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001190178.1:p.Asp674Ter",
        "hgvsWellDefined": "NP_001190178.1:p.Asp674Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915969838",
      "coordinates": [
        {
          "allele": "T",
          "end": 2322,
          "referenceAllele": "",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NM_004456.5:c.2187dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004447.2:p.Asp730Ter",
        "hgvsWellDefined": "NP_004447.2:p.Asp730Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320356.7:c.2187dup"
          },
          "RefSeq": {
            "hgvs": "NM_004456.5:c.2187dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320147.2:p.Asp730Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004447.2:p.Asp730Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830305483",
      "coordinates": [
        {
          "allele": "T",
          "end": 2190,
          "referenceAllele": "",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003527",
      "geneNCBI_id": 2146,
      "geneSymbol": "EZH2",
      "hgvs": [
        "NM_152998.3:c.2055dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_694543.1:p.Asp686Ter",
        "hgvsWellDefined": "NP_694543.1:p.Asp686Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700305"
    }
  ],
  "type": "nucleotide"
}