{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346068047",
  "communityStandardTitle": [
    "NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5625234",
        "active": true,
        "id": "COSM5625234"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5625235",
        "active": true,
        "id": "COSM5625235"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=622947[alleleid]",
        "alleleId": 622947,
        "preferredName": "NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/635110",
        "RCV": [
          "RCV000785978"
        ],
        "variationId": 635110
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.25457177G>A?assembly=hg19",
        "id": "chr2:g.25457177G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.25234308G>A?assembly=hg38",
        "id": "chr2:g.25234308G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1558650888",
        "rs": 1558650888
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-25234308-G-A?dataset=gnomad_r3",
        "id": "2-25234308-G-A",
        "variant": "2:25234308 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-25234308-G-A?dataset=gnomad_r4",
        "id": "2-25234308-G-A",
        "variant": "2:25234308 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 25234308,
          "referenceAllele": "G",
          "start": 25234307
        }
      ],
      "hgvs": [
        "NC_000002.12:g.25234308G>A",
        "CM000664.2:g.25234308G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 25457177,
          "referenceAllele": "G",
          "start": 25457176
        }
      ],
      "hgvs": [
        "NC_000002.11:g.25457177G>A",
        "CM000664.1:g.25457177G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 25310681,
          "referenceAllele": "G",
          "start": 25310680
        }
      ],
      "hgvs": [
        "NC_000002.10:g.25310681G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113283,
          "referenceAllele": "C",
          "start": 113282
        }
      ],
      "hgvs": [
        "NG_029465.2:g.113283C>T",
        "LRG_459:g.113283C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004404"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000474887.6:c.959C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000683393.1:c.1856C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508654.1:n.1856C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2292,
          "referenceAllele": "C",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000683760.1:c.2041C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507765.1:p.Pro681Ser",
        "hgvsWellDefined": "ENSP00000507765.1:p.Pro681Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2987,
          "referenceAllele": "C",
          "start": 2986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000321117.10:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324375.5:p.Pro904Ser",
        "hgvsWellDefined": "ENSP00000324375.5:p.Pro904Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746396",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321117.10:c.2710C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022552.5:c.2710C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324375.5:p.Pro904Ser"
          },
          "RefSeq": {
            "hgvs": "NP_072046.2:p.Pro904Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "referenceAllele": "C",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000264709.7:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264709.3:p.Pro904Ser",
        "hgvsWellDefined": "ENSP00000264709.3:p.Pro904Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "referenceAllele": "C",
          "start": 2946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000321117.9:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324375.5:p.Pro904Ser",
        "hgvsWellDefined": "ENSP00000324375.5:p.Pro904Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2257,
          "referenceAllele": "C",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000380746.8:c.2143C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370122.4:p.Pro715Ser",
        "hgvsWellDefined": "ENSP00000370122.4:p.Pro715Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3146,
          "referenceAllele": "C",
          "start": 3145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000380756.7:c.*563C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370132.3:n.*563C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2189,
          "referenceAllele": "C",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000402667.1:c.2041C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384237.1:p.Pro681Ser",
        "hgvsWellDefined": "ENSP00000384237.1:p.Pro681Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279586"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830007169",
      "coordinates": [
        {
          "allele": "T",
          "end": 2977,
          "referenceAllele": "C",
          "start": 2976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NM_022552.4:c.2710C>T",
        "LRG_459t1:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_072046.2:p.Pro904Ser",
        "hgvsWellDefined": "NP_072046.2:p.Pro904Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830336735",
      "coordinates": [
        {
          "allele": "T",
          "end": 2261,
          "referenceAllele": "C",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NM_153759.3:c.2143C>T",
        "LRG_459t2:c.2143C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_715640.2:p.Pro715Ser",
        "hgvsWellDefined": "NP_715640.2:p.Pro715Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913202746",
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "referenceAllele": "C",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NM_175629.2:c.2710C>T",
        "LRG_459t4:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_783328.1:p.Pro904Ser",
        "hgvsWellDefined": "NP_783328.1:p.Pro904Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2968,
          "referenceAllele": "C",
          "start": 2967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_005264175.3:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264232.1:p.Pro904Ser",
        "hgvsWellDefined": "XP_005264232.1:p.Pro904Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2176,
          "referenceAllele": "C",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_005264177.3:c.2041C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264234.1:p.Pro681Ser",
        "hgvsWellDefined": "XP_005264234.1:p.Pro681Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2281,
          "referenceAllele": "C",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_006711958.2:c.2266C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712021.1:p.Pro756Ser",
        "hgvsWellDefined": "XP_006712021.1:p.Pro756Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2861,
          "referenceAllele": "C",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532662.1:c.2563C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530964.1:p.Pro855Ser",
        "hgvsWellDefined": "XP_011530964.1:p.Pro855Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3091,
          "referenceAllele": "C",
          "start": 3090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532663.1:c.2545C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530965.1:p.Pro849Ser",
        "hgvsWellDefined": "XP_011530965.1:p.Pro849Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532665.1:c.2254C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530967.1:p.Pro752Ser",
        "hgvsWellDefined": "XP_011530967.1:p.Pro752Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2278,
          "referenceAllele": "C",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532666.1:c.2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530968.1:p.Pro728Ser",
        "hgvsWellDefined": "XP_011530968.1:p.Pro728Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2094,
          "referenceAllele": "C",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532667.1:c.2041C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530969.1:p.Pro681Ser",
        "hgvsWellDefined": "XP_011530969.1:p.Pro681Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827059923",
      "coordinates": [
        {
          "allele": "T",
          "end": 2291,
          "referenceAllele": "C",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NM_001320893.1:c.2254C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307822.1:p.Pro752Ser",
        "hgvsWellDefined": "NP_001307822.1:p.Pro752Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3247,
          "referenceAllele": "C",
          "start": 3246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NR_135490.1:n.3247C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2912,
          "referenceAllele": "C",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_005264175.5:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264232.1:p.Pro904Ser",
        "hgvsWellDefined": "XP_005264232.1:p.Pro904Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2203,
          "referenceAllele": "C",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_005264177.4:c.2041C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264234.1:p.Pro681Ser",
        "hgvsWellDefined": "XP_005264234.1:p.Pro681Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2913,
          "referenceAllele": "C",
          "start": 2912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532662.2:c.2563C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530964.1:p.Pro855Ser",
        "hgvsWellDefined": "XP_011530964.1:p.Pro855Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3090,
          "referenceAllele": "C",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532663.2:c.2545C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530965.1:p.Pro849Ser",
        "hgvsWellDefined": "XP_011530965.1:p.Pro849Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532666.2:c.2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530968.1:p.Pro728Ser",
        "hgvsWellDefined": "XP_011530968.1:p.Pro728Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2094,
          "referenceAllele": "C",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532667.3:c.2041C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530969.1:p.Pro681Ser",
        "hgvsWellDefined": "XP_011530969.1:p.Pro681Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3019,
          "referenceAllele": "C",
          "start": 3018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_017003526.1:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859015.1:p.Pro904Ser",
        "hgvsWellDefined": "XP_016859015.1:p.Pro904Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2247,
          "referenceAllele": "C",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_017003527.1:c.2041C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859016.1:p.Pro681Ser",
        "hgvsWellDefined": "XP_016859016.1:p.Pro681Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2917,
          "referenceAllele": "C",
          "start": 2916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XR_001738657.1:n.2917C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828630328",
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "C",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NM_001375819.1:c.2041C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362748.1:p.Pro681Ser",
        "hgvsWellDefined": "NP_001362748.1:p.Pro681Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3140,
          "referenceAllele": "C",
          "start": 3139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NR_135490.2:n.3140C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703654"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830007169",
      "coordinates": [
        {
          "allele": "T",
          "end": 2987,
          "referenceAllele": "C",
          "start": 2986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NM_022552.5:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_072046.2:p.Pro904Ser",
        "hgvsWellDefined": "NP_072046.2:p.Pro904Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321117.10:c.2710C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022552.5:c.2710C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324375.5:p.Pro904Ser"
          },
          "RefSeq": {
            "hgvs": "NP_072046.2:p.Pro904Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}