{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3578150",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.7531G>C (p.Asp2511His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=537786[alleleid]",
        "alleleId": 537786,
        "preferredName": "NM_022455.5(NSD1):c.7531G>C (p.Asp2511His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547729",
        "RCV": [
          "RCV003231573"
        ],
        "variationId": 547729
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-176721900-G-C",
        "id": "5-176721900-G-C",
        "variant": "5:176721900 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176721900G>C?assembly=hg19",
        "id": "chr5:g.176721900G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177294899G>C?assembly=hg38",
        "id": "chr5:g.177294899G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/575229932",
        "rs": 575229932
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-176721900-G-C?dataset=gnomad_r2_1",
        "id": "5-176721900-G-C",
        "variant": "5:176721900 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177294899-G-C?dataset=gnomad_r3",
        "id": "5-177294899-G-C",
        "variant": "5:177294899 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177294899-G-C?dataset=gnomad_r4",
        "id": "5-177294899-G-C",
        "variant": "5:177294899 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 177294899,
          "referenceAllele": "G",
          "start": 177294898
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177294899G>C",
        "CM000667.2:g.177294899G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 176721900,
          "referenceAllele": "G",
          "start": 176721899
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176721900G>C",
        "CM000667.1:g.176721900G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 176654506,
          "referenceAllele": "G",
          "start": 176654505
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176654506G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 166821,
          "referenceAllele": "G",
          "start": 166820
        }
      ],
      "hgvs": [
        "NG_009821.1:g.166821G>C",
        "LRG_512:g.166821G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6913,
          "referenceAllele": "G",
          "start": 6912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.6658G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Asp2220His",
        "hgvsWellDefined": "ENSP00000423372.3:p.Asp2220His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6825,
          "referenceAllele": "G",
          "start": 6824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.6658G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Asp2220His",
        "hgvsWellDefined": "ENSP00000343209.5:p.Asp2220His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6884,
          "referenceAllele": "G",
          "start": 6883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.6658G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Asp2220His",
        "hgvsWellDefined": "ENSP00000346111.5:p.Asp2220His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2468,
          "referenceAllele": "G",
          "start": 2467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.6:c.2173G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.2:p.Asp725His",
        "hgvsWellDefined": "ENSP00000424024.2:p.Asp725His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2632,
          "referenceAllele": "G",
          "start": 2631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508029.6:c.2173G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425120.2:p.Asp725His",
        "hgvsWellDefined": "ENSP00000425120.2:p.Asp725His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7114,
          "referenceAllele": "G",
          "start": 7113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.7114G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1947,
          "referenceAllele": "G",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686385.1:n.1947G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6843,
          "referenceAllele": "G",
          "start": 6842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.6658G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Asp2220His",
        "hgvsWellDefined": "ENSP00000510020.1:p.Asp2220His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7240,
          "referenceAllele": "G",
          "start": 7239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.7222G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Asp2408His",
        "hgvsWellDefined": "ENSP00000508426.1:p.Asp2408His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6928,
          "referenceAllele": "G",
          "start": 6927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.6928G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6861,
          "referenceAllele": "G",
          "start": 6860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.6658G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Asp2220His",
        "hgvsWellDefined": "ENSP00000509711.1:p.Asp2220His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7728,
          "referenceAllele": "G",
          "start": 7727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.7531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Asp2511His",
        "hgvsWellDefined": "ENSP00000395929.2:p.Asp2511His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.7531G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.7531G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Asp2511His"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Asp2511His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6825,
          "referenceAllele": "G",
          "start": 6824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.6724G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Asp2242His",
        "hgvsWellDefined": "ENSP00000343209.4:p.Asp2242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6884,
          "referenceAllele": "G",
          "start": 6883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.6724G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Asp2242His",
        "hgvsWellDefined": "ENSP00000346111.4:p.Asp2242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7576,
          "referenceAllele": "G",
          "start": 7575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.7531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Asp2511His",
        "hgvsWellDefined": "ENSP00000395929.2:p.Asp2511His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829342",
      "coordinates": [
        {
          "allele": "C",
          "end": 7669,
          "referenceAllele": "G",
          "start": 7668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.7531G>C",
        "LRG_512t1:c.7531G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Asp2511His",
        "hgvsWellDefined": "NP_071900.2:p.Asp2511His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6884,
          "referenceAllele": "G",
          "start": 6883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.6724G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Asp2242His",
        "hgvsWellDefined": "NP_758859.1:p.Asp2242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7678,
          "referenceAllele": "G",
          "start": 7677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.7531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Asp2511His",
        "hgvsWellDefined": "XP_005266016.1:p.Asp2511His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6825,
          "referenceAllele": "G",
          "start": 6824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.6724G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Asp2242His",
        "hgvsWellDefined": "XP_005266017.1:p.Asp2242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6843,
          "referenceAllele": "G",
          "start": 6842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.6724G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Asp2242His",
        "hgvsWellDefined": "XP_005266018.1:p.Asp2242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3185,
          "referenceAllele": "G",
          "start": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265962.3:c.3025G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266019.1:p.Asp1009His",
        "hgvsWellDefined": "XP_005266019.1:p.Asp1009His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7600,
          "referenceAllele": "G",
          "start": 7599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.7531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Asp2511His",
        "hgvsWellDefined": "XP_011532912.1:p.Asp2511His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7571,
          "referenceAllele": "G",
          "start": 7570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.7531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Asp2511His",
        "hgvsWellDefined": "XP_011532913.1:p.Asp2511His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7314,
          "referenceAllele": "G",
          "start": 7313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.7111G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Asp2371His",
        "hgvsWellDefined": "XP_011532914.1:p.Asp2371His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6666,
          "referenceAllele": "G",
          "start": 6665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.6475G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Asp2159His",
        "hgvsWellDefined": "XP_011532915.1:p.Asp2159His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3428,
          "referenceAllele": "G",
          "start": 3427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534617.1:c.3265G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532919.1:p.Asp1089His",
        "hgvsWellDefined": "XP_011532919.1:p.Asp1089His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6825,
          "referenceAllele": "G",
          "start": 6824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.6724G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Asp2242His",
        "hgvsWellDefined": "NP_001352613.1:p.Asp2242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7678,
          "referenceAllele": "G",
          "start": 7677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.7531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Asp2511His",
        "hgvsWellDefined": "XP_024301918.1:p.Asp2511His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7653,
          "referenceAllele": "G",
          "start": 7652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.7531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Asp2511His",
        "hgvsWellDefined": "XP_024301919.1:p.Asp2511His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7607,
          "referenceAllele": "G",
          "start": 7606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.7531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Asp2511His",
        "hgvsWellDefined": "XP_024301920.1:p.Asp2511His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8302,
          "referenceAllele": "G",
          "start": 8301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.7531G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Asp2511His",
        "hgvsWellDefined": "XP_024301921.1:p.Asp2511His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7319,
          "referenceAllele": "G",
          "start": 7318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.7111G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Asp2371His",
        "hgvsWellDefined": "XP_024301922.1:p.Asp2371His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7017,
          "referenceAllele": "G",
          "start": 7016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.6724G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Asp2242His",
        "hgvsWellDefined": "XP_024301923.1:p.Asp2242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6864,
          "referenceAllele": "G",
          "start": 6863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.6724G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Asp2242His",
        "hgvsWellDefined": "XP_024301924.1:p.Asp2242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6908,
          "referenceAllele": "G",
          "start": 6907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.6724G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Asp2242His",
        "hgvsWellDefined": "XP_024301926.1:p.Asp2242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6702,
          "referenceAllele": "G",
          "start": 6701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.6475G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Asp2159His",
        "hgvsWellDefined": "XP_024301927.1:p.Asp2159His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6379,
          "referenceAllele": "G",
          "start": 6378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.3265G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:p.Asp1089His",
        "hgvsWellDefined": "XP_024301930.1:p.Asp1089His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3189,
          "referenceAllele": "G",
          "start": 3188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446163.1:c.3025G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301931.1:p.Asp1009His",
        "hgvsWellDefined": "XP_024301931.1:p.Asp1009His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829342",
      "coordinates": [
        {
          "allele": "C",
          "end": 7728,
          "referenceAllele": "G",
          "start": 7727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.7531G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Asp2511His",
        "hgvsWellDefined": "NP_071900.2:p.Asp2511His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.7531G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.7531G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Asp2511His"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Asp2511His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6948,
          "referenceAllele": "G",
          "start": 6947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.6724G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Asp2242His",
        "hgvsWellDefined": "NP_758859.1:p.Asp2242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}