{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294963",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.5432G>A (p.Arg1811Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1567766",
        "active": true,
        "id": "COSM1567766"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1567767",
        "active": true,
        "id": "COSM1567767"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168222[alleleid]",
        "alleleId": 168222,
        "preferredName": "NM_022455.5(NSD1):c.5432G>A (p.Arg1811Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159370",
        "RCV": [
          "RCV003231270"
        ],
        "variationId": 159370
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176696731G>A?assembly=hg19",
        "id": "chr5:g.176696731G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177269730G>A?assembly=hg38",
        "id": "chr5:g.177269730G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587784149",
        "rs": 587784149
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 177269730,
          "referenceAllele": "G",
          "start": 177269729
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177269730G>A",
        "CM000667.2:g.177269730G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 176696731,
          "referenceAllele": "G",
          "start": 176696730
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176696731G>A",
        "CM000667.1:g.176696731G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 176629337,
          "referenceAllele": "G",
          "start": 176629336
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176629337G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141652,
          "referenceAllele": "G",
          "start": 141651
        }
      ],
      "hgvs": [
        "NG_009821.1:g.141652G>A",
        "LRG_512:g.141652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4814,
          "referenceAllele": "G",
          "start": 4813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.4559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Arg1520Gln",
        "hgvsWellDefined": "ENSP00000423372.3:p.Arg1520Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4726,
          "referenceAllele": "G",
          "start": 4725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.4559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Arg1520Gln",
        "hgvsWellDefined": "ENSP00000343209.5:p.Arg1520Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4785,
          "referenceAllele": "G",
          "start": 4784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.4559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Arg1520Gln",
        "hgvsWellDefined": "ENSP00000346111.5:p.Arg1520Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.6:c.74G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.2:p.Arg25Gln",
        "hgvsWellDefined": "ENSP00000424024.2:p.Arg25Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508029.6:c.74G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425120.2:p.Arg25Gln",
        "hgvsWellDefined": "ENSP00000425120.2:p.Arg25Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5015,
          "referenceAllele": "G",
          "start": 5014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.5015G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4744,
          "referenceAllele": "G",
          "start": 4743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.4559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Arg1520Gln",
        "hgvsWellDefined": "ENSP00000510020.1:p.Arg1520Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 258,
          "endIntronDirection": "+",
          "endIntronOffset": 2012,
          "referenceAllele": "G",
          "start": 258,
          "startIntronDirection": "+",
          "startIntronOffset": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687095.1:n.258+2012G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5141,
          "referenceAllele": "G",
          "start": 5140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.5123G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Arg1708Gln",
        "hgvsWellDefined": "ENSP00000508426.1:p.Arg1708Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4829,
          "referenceAllele": "G",
          "start": 4828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.4829G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4762,
          "referenceAllele": "G",
          "start": 4761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.4559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Arg1520Gln",
        "hgvsWellDefined": "ENSP00000509711.1:p.Arg1520Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5579,
          "referenceAllele": "G",
          "start": 5578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689549.1:n.5579G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2351,
          "referenceAllele": "G",
          "start": 2350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000692024.1:n.2351G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5629,
          "referenceAllele": "G",
          "start": 5628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.5432G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Arg1811Gln",
        "hgvsWellDefined": "ENSP00000395929.2:p.Arg1811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.5432G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.5432G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Arg1811Gln"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Arg1811Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4726,
          "referenceAllele": "G",
          "start": 4725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.4625G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Arg1542Gln",
        "hgvsWellDefined": "ENSP00000343209.4:p.Arg1542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4785,
          "referenceAllele": "G",
          "start": 4784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.4625G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Arg1542Gln",
        "hgvsWellDefined": "ENSP00000346111.4:p.Arg1542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5477,
          "referenceAllele": "G",
          "start": 5476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.5432G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Arg1811Gln",
        "hgvsWellDefined": "ENSP00000395929.2:p.Arg1811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.5:c.74G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.1:p.Arg25Gln",
        "hgvsWellDefined": "ENSP00000424024.1:p.Arg25Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508029.5:c.74G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425120.1:p.Arg25Gln",
        "hgvsWellDefined": "ENSP00000425120.1:p.Arg25Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000515735.1:c.74G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423048.1:p.Arg25Gln",
        "hgvsWellDefined": "ENSP00000423048.1:p.Arg25Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294965",
      "coordinates": [
        {
          "allele": "A",
          "end": 5570,
          "referenceAllele": "G",
          "start": 5569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.5432G>A",
        "LRG_512t1:c.5432G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Arg1811Gln",
        "hgvsWellDefined": "NP_071900.2:p.Arg1811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4785,
          "referenceAllele": "G",
          "start": 4784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.4625G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Arg1542Gln",
        "hgvsWellDefined": "NP_758859.1:p.Arg1542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5579,
          "referenceAllele": "G",
          "start": 5578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.5432G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Arg1811Gln",
        "hgvsWellDefined": "XP_005266016.1:p.Arg1811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4726,
          "referenceAllele": "G",
          "start": 4725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.4625G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Arg1542Gln",
        "hgvsWellDefined": "XP_005266017.1:p.Arg1542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4744,
          "referenceAllele": "G",
          "start": 4743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.4625G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Arg1542Gln",
        "hgvsWellDefined": "XP_005266018.1:p.Arg1542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265962.3:c.926G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266019.1:p.Arg309Gln",
        "hgvsWellDefined": "XP_005266019.1:p.Arg309Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5501,
          "referenceAllele": "G",
          "start": 5500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.5432G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Arg1811Gln",
        "hgvsWellDefined": "XP_011532912.1:p.Arg1811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5472,
          "referenceAllele": "G",
          "start": 5471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.5432G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Arg1811Gln",
        "hgvsWellDefined": "XP_011532913.1:p.Arg1811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5215,
          "referenceAllele": "G",
          "start": 5214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.5012G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Arg1671Gln",
        "hgvsWellDefined": "XP_011532914.1:p.Arg1671Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4567,
          "referenceAllele": "G",
          "start": 4566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.4376G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Arg1459Gln",
        "hgvsWellDefined": "XP_011532915.1:p.Arg1459Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1329,
          "referenceAllele": "G",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534617.1:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532919.1:p.Arg389Gln",
        "hgvsWellDefined": "XP_011532919.1:p.Arg389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4726,
          "referenceAllele": "G",
          "start": 4725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.4625G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Arg1542Gln",
        "hgvsWellDefined": "NP_001352613.1:p.Arg1542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5579,
          "referenceAllele": "G",
          "start": 5578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.5432G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Arg1811Gln",
        "hgvsWellDefined": "XP_024301918.1:p.Arg1811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5554,
          "referenceAllele": "G",
          "start": 5553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.5432G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Arg1811Gln",
        "hgvsWellDefined": "XP_024301919.1:p.Arg1811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5508,
          "referenceAllele": "G",
          "start": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.5432G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Arg1811Gln",
        "hgvsWellDefined": "XP_024301920.1:p.Arg1811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6203,
          "referenceAllele": "G",
          "start": 6202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.5432G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Arg1811Gln",
        "hgvsWellDefined": "XP_024301921.1:p.Arg1811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5220,
          "referenceAllele": "G",
          "start": 5219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.5012G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Arg1671Gln",
        "hgvsWellDefined": "XP_024301922.1:p.Arg1671Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4918,
          "referenceAllele": "G",
          "start": 4917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.4625G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Arg1542Gln",
        "hgvsWellDefined": "XP_024301923.1:p.Arg1542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4765,
          "referenceAllele": "G",
          "start": 4764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.4625G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Arg1542Gln",
        "hgvsWellDefined": "XP_024301924.1:p.Arg1542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4809,
          "referenceAllele": "G",
          "start": 4808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.4625G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Arg1542Gln",
        "hgvsWellDefined": "XP_024301926.1:p.Arg1542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4603,
          "referenceAllele": "G",
          "start": 4602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.4376G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Arg1459Gln",
        "hgvsWellDefined": "XP_024301927.1:p.Arg1459Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4280,
          "referenceAllele": "G",
          "start": 4279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:p.Arg389Gln",
        "hgvsWellDefined": "XP_024301930.1:p.Arg389Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446163.1:c.926G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301931.1:p.Arg309Gln",
        "hgvsWellDefined": "XP_024301931.1:p.Arg309Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294965",
      "coordinates": [
        {
          "allele": "A",
          "end": 5629,
          "referenceAllele": "G",
          "start": 5628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.5432G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Arg1811Gln",
        "hgvsWellDefined": "NP_071900.2:p.Arg1811Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.5432G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.5432G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Arg1811Gln"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Arg1811Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4849,
          "referenceAllele": "G",
          "start": 4848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.4625G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Arg1542Gln",
        "hgvsWellDefined": "NP_758859.1:p.Arg1542Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}