{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390865395",
  "communityStandardTitle": [
    "NM_177438.3(DICER1):c.5125G>A (p.Asp1709Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=959249",
        "active": true,
        "id": "COSM959249"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=678128[alleleid]",
        "alleleId": 678128,
        "preferredName": "NM_177438.3(DICER1):c.5125G>A (p.Asp1709Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/690480",
        "RCV": [
          "RCV000851475",
          "RCV001200976",
          "RCV002345932"
        ],
        "variationId": 690480
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.95560464C>T?assembly=hg19",
        "id": "chr14:g.95560464C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.95094127C>T?assembly=hg38",
        "id": "chr14:g.95094127C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1595331264",
        "rs": 1595331264
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 95094127,
          "referenceAllele": "C",
          "start": 95094126
        }
      ],
      "hgvs": [
        "NC_000014.9:g.95094127C>T",
        "CM000676.2:g.95094127C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 95560464,
          "referenceAllele": "C",
          "start": 95560463
        }
      ],
      "hgvs": [
        "NC_000014.8:g.95560464C>T",
        "CM000676.1:g.95560464C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 94630217,
          "referenceAllele": "C",
          "start": 94630216
        }
      ],
      "hgvs": [
        "NC_000014.7:g.94630217C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 68296,
          "referenceAllele": "G",
          "start": 68295
        }
      ],
      "hgvs": [
        "NG_016311.1:g.68296G>A",
        "LRG_492:g.68296G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003089"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5460,
          "referenceAllele": "G",
          "start": 5459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000529720.2:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433926.2:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000433926.2:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5554,
          "referenceAllele": "G",
          "start": 5553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000531162.7:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433060.3:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000433060.3:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5569,
          "referenceAllele": "G",
          "start": 5568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000674628.2:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502730.2:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000502730.2:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5457,
          "referenceAllele": "G",
          "start": 5456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000675540.2:c.*1775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501988.2:n.*1775G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5373,
          "referenceAllele": "G",
          "start": 5372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000696733.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512838.1:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000512838.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5418,
          "referenceAllele": "G",
          "start": 5417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000696734.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512839.1:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000512839.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2112,
          "referenceAllele": "G",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000696735.1:n.2112G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5534,
          "referenceAllele": "G",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000696736.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512840.1:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000512840.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5388,
          "referenceAllele": "G",
          "start": 5387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000696920.1:n.5388G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6231,
          "referenceAllele": "G",
          "start": 6230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000696921.1:n.6231G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5534,
          "referenceAllele": "G",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000696922.1:n.5534G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5534,
          "referenceAllele": "G",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000696923.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512976.1:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000512976.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5534,
          "referenceAllele": "G",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000696924.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512977.1:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000512977.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5534,
          "referenceAllele": "G",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000696925.1:n.5534G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5470,
          "referenceAllele": "G",
          "start": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000343455.8:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343745.3:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000343745.3:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343455.8:c.5125G>A"
          },
          "RefSeq": {
            "hgvs": "NM_177438.3:c.5125G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343745.3:p.Asp1709Asn"
          },
          "RefSeq": {
            "hgvs": "NP_803187.1:p.Asp1709Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5528,
          "referenceAllele": "G",
          "start": 5527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000393063.6:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376783.1:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000376783.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5417,
          "referenceAllele": "G",
          "start": 5416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000526495.6:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437256.1:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000437256.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5396,
          "referenceAllele": "G",
          "start": 5395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000556045.6:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451041.2:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000451041.2:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2870,
          "referenceAllele": "G",
          "start": 2869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000675540.1:c.2870G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501988.1:n.2870G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5285,
          "referenceAllele": "G",
          "start": 5284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000675995.1:c.*3441G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502591.1:n.*3441G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5363,
          "referenceAllele": "G",
          "start": 5362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000343455.7:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343745.3:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000343745.3:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5307,
          "referenceAllele": "G",
          "start": 5306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000393063.5:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376783.1:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000376783.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5417,
          "referenceAllele": "G",
          "start": 5416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000526495.5:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437256.1:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000437256.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5358,
          "referenceAllele": "G",
          "start": 5357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000527414.5:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435681.1:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000435681.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5134,
          "referenceAllele": "G",
          "start": 5133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000541352.5:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444719.1:p.Asp1709Asn",
        "hgvsWellDefined": "ENSP00000444719.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2102,
          "referenceAllele": "G",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "ENST00000556045.5:c.1819G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451041.1:p.Asp607Asn",
        "hgvsWellDefined": "ENSP00000451041.1:p.Asp607Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826209183",
      "coordinates": [
        {
          "allele": "A",
          "end": 5170,
          "referenceAllele": "G",
          "start": 5169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001195573.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182502.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001182502.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826514437",
      "coordinates": [
        {
          "allele": "A",
          "end": 5358,
          "referenceAllele": "G",
          "start": 5357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001271282.2:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258211.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001258211.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826805545",
      "coordinates": [
        {
          "allele": "A",
          "end": 5246,
          "referenceAllele": "G",
          "start": 5245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001291628.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278557.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001278557.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830044426",
      "coordinates": [
        {
          "allele": "A",
          "end": 5417,
          "referenceAllele": "G",
          "start": 5416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_030621.4:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_085124.2:p.Asp1709Asn",
        "hgvsWellDefined": "NP_085124.2:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916074535",
      "coordinates": [
        {
          "allele": "A",
          "end": 5363,
          "referenceAllele": "G",
          "start": 5362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_177438.2:c.5125G>A",
        "LRG_492t1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_803187.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_803187.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5549,
          "referenceAllele": "G",
          "start": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536599.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534901.1:p.Asp1709Asn",
        "hgvsWellDefined": "XP_011534901.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5361,
          "referenceAllele": "G",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536600.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534902.1:p.Asp1709Asn",
        "hgvsWellDefined": "XP_011534902.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5588,
          "referenceAllele": "G",
          "start": 5587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536601.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534903.1:p.Asp1709Asn",
        "hgvsWellDefined": "XP_011534903.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5479,
          "referenceAllele": "G",
          "start": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536602.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534904.1:p.Asp1709Asn",
        "hgvsWellDefined": "XP_011534904.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5440,
          "referenceAllele": "G",
          "start": 5439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536603.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534905.1:p.Asp1709Asn",
        "hgvsWellDefined": "XP_011534905.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5245,
          "referenceAllele": "G",
          "start": 5244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536604.1:c.4720G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534906.1:p.Asp1574Asn",
        "hgvsWellDefined": "XP_011534906.1:p.Asp1574Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4691,
          "referenceAllele": "G",
          "start": 4690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536605.1:c.3646G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534907.1:p.Asp1216Asn",
        "hgvsWellDefined": "XP_011534907.1:p.Asp1216Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6371,
          "referenceAllele": "G",
          "start": 6370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536599.2:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534901.1:p.Asp1709Asn",
        "hgvsWellDefined": "XP_011534901.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6210,
          "referenceAllele": "G",
          "start": 6209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536600.3:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534902.1:p.Asp1709Asn",
        "hgvsWellDefined": "XP_011534902.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5568,
          "referenceAllele": "G",
          "start": 5567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536601.3:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534903.1:p.Asp1709Asn",
        "hgvsWellDefined": "XP_011534903.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5459,
          "referenceAllele": "G",
          "start": 5458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536602.3:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534904.1:p.Asp1709Asn",
        "hgvsWellDefined": "XP_011534904.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5245,
          "referenceAllele": "G",
          "start": 5244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536604.2:c.4720G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534906.1:p.Asp1574Asn",
        "hgvsWellDefined": "XP_011534906.1:p.Asp1574Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10050,
          "referenceAllele": "G",
          "start": 10049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_011536605.2:c.3646G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534907.1:p.Asp1216Asn",
        "hgvsWellDefined": "XP_011534907.1:p.Asp1216Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5761,
          "referenceAllele": "G",
          "start": 5760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_017021120.2:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876609.1:p.Asp1709Asn",
        "hgvsWellDefined": "XP_016876609.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6043,
          "referenceAllele": "G",
          "start": 6042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_017021121.2:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876610.1:p.Asp1709Asn",
        "hgvsWellDefined": "XP_016876610.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6240,
          "referenceAllele": "G",
          "start": 6239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_017021122.2:c.4720G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876611.1:p.Asp1574Asn",
        "hgvsWellDefined": "XP_016876611.1:p.Asp1574Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5630,
          "referenceAllele": "G",
          "start": 5629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "XM_017021123.2:c.4720G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876612.1:p.Asp1574Asn",
        "hgvsWellDefined": "XP_016876612.1:p.Asp1574Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826514437",
      "coordinates": [
        {
          "allele": "A",
          "end": 5349,
          "referenceAllele": "G",
          "start": 5348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001271282.3:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258211.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001258211.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826805545",
      "coordinates": [
        {
          "allele": "A",
          "end": 5246,
          "referenceAllele": "G",
          "start": 5245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001291628.2:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278557.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001278557.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716707"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916074535",
      "coordinates": [
        {
          "allele": "A",
          "end": 5470,
          "referenceAllele": "G",
          "start": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_177438.3:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_803187.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_803187.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343455.8:c.5125G>A"
          },
          "RefSeq": {
            "hgvs": "NM_177438.3:c.5125G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343745.3:p.Asp1709Asn"
          },
          "RefSeq": {
            "hgvs": "NP_803187.1:p.Asp1709Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5520,
          "referenceAllele": "G",
          "start": 5519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395677.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382606.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001382606.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5309,
          "referenceAllele": "G",
          "start": 5308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395678.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382607.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001382607.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5637,
          "referenceAllele": "G",
          "start": 5636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395679.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382608.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001382608.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5476,
          "referenceAllele": "G",
          "start": 5475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395680.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382609.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001382609.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5780,
          "referenceAllele": "G",
          "start": 5779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395682.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382611.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001382611.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5571,
          "referenceAllele": "G",
          "start": 5570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395683.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382612.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001382612.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5613,
          "referenceAllele": "G",
          "start": 5612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395684.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382613.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001382613.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5470,
          "referenceAllele": "G",
          "start": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395685.1:c.5125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382614.1:p.Asp1709Asn",
        "hgvsWellDefined": "NP_001382614.1:p.Asp1709Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5462,
          "referenceAllele": "G",
          "start": 5461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395686.1:c.4843G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382615.1:p.Asp1615Asn",
        "hgvsWellDefined": "NP_001382615.1:p.Asp1615Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5150,
          "referenceAllele": "G",
          "start": 5149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395687.1:c.4720G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382616.1:p.Asp1574Asn",
        "hgvsWellDefined": "NP_001382616.1:p.Asp1574Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5506,
          "referenceAllele": "G",
          "start": 5505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395688.1:c.4720G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382617.1:p.Asp1574Asn",
        "hgvsWellDefined": "NP_001382617.1:p.Asp1574Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5339,
          "referenceAllele": "G",
          "start": 5338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395689.1:c.4720G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382618.1:p.Asp1574Asn",
        "hgvsWellDefined": "NP_001382618.1:p.Asp1574Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5345,
          "referenceAllele": "G",
          "start": 5344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395690.1:c.4720G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382619.1:p.Asp1574Asn",
        "hgvsWellDefined": "NP_001382619.1:p.Asp1574Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5361,
          "referenceAllele": "G",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395691.1:c.4558G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382620.1:p.Asp1520Asn",
        "hgvsWellDefined": "NP_001382620.1:p.Asp1520Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5522,
          "referenceAllele": "G",
          "start": 5521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NM_001395697.1:c.3442G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382626.1:p.Asp1148Asn",
        "hgvsWellDefined": "NP_001382626.1:p.Asp1148Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5543,
          "referenceAllele": "G",
          "start": 5542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NR_172715.1:n.5543G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5727,
          "referenceAllele": "G",
          "start": 5726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NR_172716.1:n.5727G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5637,
          "referenceAllele": "G",
          "start": 5636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NR_172717.1:n.5637G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5560,
          "referenceAllele": "G",
          "start": 5559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NR_172718.1:n.5560G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5393,
          "referenceAllele": "G",
          "start": 5392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NR_172719.1:n.5393G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5470,
          "referenceAllele": "G",
          "start": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NR_172720.1:n.5470G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784615"
    }
  ],
  "type": "nucleotide"
}