{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2322306653",
  "communityStandardTitle": [
    "NM_001130823.3(DNMT1):c.80+5079T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10420321",
        "rs": 10420321
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 10189741,
          "referenceAllele": "A",
          "start": 10189740
        }
      ],
      "hgvs": [
        "NC_000019.10:g.10189741A=",
        "CM000681.2:g.10189741A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 10300417,
          "referenceAllele": "A",
          "start": 10300416
        }
      ],
      "hgvs": [
        "NC_000019.9:g.10300417A=",
        "CM000681.1:g.10300417A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 10161417,
          "referenceAllele": "A",
          "start": 10161416
        }
      ],
      "hgvs": [
        "NC_000019.8:g.10161417A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46546,
          "referenceAllele": "T",
          "start": 46545
        }
      ],
      "hgvs": [
        "NG_028016.3:g.46546T=",
        "LRG_362:g.46546T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004037"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 134,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000359526.9:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352516.3:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749209",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359526.9:c.80+5079T="
          },
          "RefSeq": {
            "hgvs": "NM_001130823.3:c.80+5079T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352516.3:n.80+5079T="
          },
          "RefSeq": {
            "hgvs": "NP_001124295.1:n.80+5079T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000676610.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504236.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000676820.1:n.136+5079T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 134,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000677013.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503135.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 134,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000677250.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502894.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000677634.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504246.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000677685.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503407.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000677946.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504202.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000678804.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503853.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000679103.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503151.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000679313.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504512.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 316,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000340748.8:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345739.3:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000359526.8:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352516.3:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "endIntronDirection": "+",
          "endIntronOffset": 5202,
          "referenceAllele": "T",
          "start": 193,
          "startIntronDirection": "+",
          "startIntronOffset": 5201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000540357.5:c.-561+5202T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440457.2:n.-561+5202T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "endIntronDirection": "-",
          "endIntronOffset": 7663,
          "referenceAllele": "T",
          "start": 223,
          "startIntronDirection": "-",
          "startIntronOffset": 7664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000586800.5:c.-283-7664T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465555.1:n.-283-7664T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 85,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000586988.5:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464958.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 453,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000588118.5:c.245+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465223.1:n.245+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "endIntronDirection": "-",
          "endIntronOffset": 7663,
          "referenceAllele": "T",
          "start": 201,
          "startIntronDirection": "-",
          "startIntronOffset": 7664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000588952.5:c.-283-7664T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467050.1:n.-283-7664T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 4792,
          "referenceAllele": "T",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 4791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000592054.5:c.-284+4792T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468359.1:n.-284+4792T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70,
          "endIntronDirection": "-",
          "endIntronOffset": 7663,
          "referenceAllele": "T",
          "start": 70,
          "startIntronDirection": "-",
          "startIntronOffset": 7664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000592342.5:c.-283-7664T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465993.1:n.-283-7664T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 115,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 115,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "ENST00000592705.5:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466657.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "NM_001130823.1:c.80+5079T=",
        "LRG_362t1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124295.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "NM_001379.2:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001370.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 203,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 203,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "XM_011527772.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526074.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "XM_011527773.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526075.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 4792,
          "referenceAllele": "T",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 4791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "XM_011527774.1:c.-284+4792T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526076.1:n.-284+4792T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 316,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "NM_001130823.2:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124295.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 235,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "NM_001318730.1:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305659.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 235,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "NM_001318731.1:c.-244+5079T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305660.1:n.-244+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 316,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "NM_001379.3:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001370.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 134,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "NM_001130823.3:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124295.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663596",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359526.9:c.80+5079T="
          },
          "RefSeq": {
            "hgvs": "NM_001130823.3:c.80+5079T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352516.3:n.80+5079T="
          },
          "RefSeq": {
            "hgvs": "NP_001124295.1:n.80+5079T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 134,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "NM_001318730.2:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305659.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 134,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "NM_001318731.2:c.-244+5079T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305660.1:n.-244+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "T",
          "start": 134,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002976",
      "geneNCBI_id": 1786,
      "geneSymbol": "DNMT1",
      "hgvs": [
        "NM_001379.4:c.80+5079T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001370.1:n.80+5079T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695281"
    }
  ],
  "type": "nucleotide"
}