{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5564963",
  "communityStandardTitle": [
    "NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1596521[alleleid]",
        "alleleId": 1596521,
        "preferredName": "NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1629999",
        "RCV": [
          "RCV002118738",
          "RCV002500207"
        ],
        "variationId": 1629999
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-76788659-G-A",
        "id": "10-76788659-G-A",
        "variant": "10:76788659 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.76788659G>A?assembly=hg19",
        "id": "chr10:g.76788659G>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.76788659_76788668delinsAGAAGAGGAA?assembly=hg19",
        "id": "chr10:g.76788659_76788668delinsAGAAGAGGAA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.75028901G>A?assembly=hg38",
        "id": "chr10:g.75028901G>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.75028901_75028910delinsAGAAGAGGAA?assembly=hg38",
        "id": "chr10:g.75028901_75028910delinsAGAAGAGGAA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/560274634",
        "rs": 560274634
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-76788659-G-A?dataset=gnomad_r2_1",
        "id": "10-76788659-G-A",
        "variant": "10:76788659 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-75028901-G-A?dataset=gnomad_r3",
        "id": "10-75028901-G-A",
        "variant": "10:75028901 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-75028901-G-A?dataset=gnomad_r4",
        "id": "10-75028901-G-A",
        "variant": "10:75028901 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 75028901,
          "referenceAllele": "G",
          "start": 75028900
        }
      ],
      "hgvs": [
        "NC_000010.11:g.75028901G>A",
        "CM000672.2:g.75028901G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 76788659,
          "referenceAllele": "G",
          "start": 76788658
        }
      ],
      "hgvs": [
        "NC_000010.10:g.76788659G>A",
        "CM000672.1:g.76788659G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 76458665,
          "referenceAllele": "G",
          "start": 76458664
        }
      ],
      "hgvs": [
        "NC_000010.9:g.76458665G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 207489,
          "referenceAllele": "G",
          "start": 207488
        }
      ],
      "hgvs": [
        "NG_032048.1:g.207489G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005108"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4591,
          "referenceAllele": "G",
          "start": 4590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000287239.10:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287239.4:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743891",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287239.10:c.4077G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012330.4:c.4077G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287239.4:p.Glu1359="
          },
          "RefSeq": {
            "hgvs": "NP_036462.2:p.Glu1359="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3913,
          "referenceAllele": "G",
          "start": 3912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372711.2:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361796.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3683,
          "referenceAllele": "G",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372714.6:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361799.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4193,
          "referenceAllele": "G",
          "start": 4192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372724.6:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361809.2:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3635,
          "referenceAllele": "G",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372725.6:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361810.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4622,
          "referenceAllele": "G",
          "start": 4621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000648048.1:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497325.1:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3996,
          "referenceAllele": "G",
          "start": 3995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000648370.1:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497804.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4826,
          "referenceAllele": "G",
          "start": 4825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000648725.1:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497841.1:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3902,
          "referenceAllele": "G",
          "start": 3901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000648892.1:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497048.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3511,
          "referenceAllele": "G",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000649006.1:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498139.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4588,
          "referenceAllele": "G",
          "start": 4587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000649463.1:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497166.1:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4566,
          "referenceAllele": "G",
          "start": 4565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000287239.8:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287239.4:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3839,
          "referenceAllele": "G",
          "start": 3838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372711.1:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361796.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3603,
          "referenceAllele": "G",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372714.5:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361799.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3715,
          "referenceAllele": "G",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372724.5:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361809.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3552,
          "referenceAllele": "G",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "ENST00000372725.5:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361810.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826395855",
      "coordinates": [
        {
          "allele": "A",
          "end": 4229,
          "referenceAllele": "G",
          "start": 4228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001256468.1:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243397.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826396703",
      "coordinates": [
        {
          "allele": "A",
          "end": 3902,
          "referenceAllele": "G",
          "start": 3901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001256469.1:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243398.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829731268",
      "coordinates": [
        {
          "allele": "A",
          "end": 4778,
          "referenceAllele": "G",
          "start": 4777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_012330.3:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036462.2:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4839,
          "referenceAllele": "G",
          "start": 4838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_005269664.2:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269721.1:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "endIntronDirection": "-",
          "endIntronOffset": 2306,
          "referenceAllele": "C",
          "start": 576,
          "startIntronDirection": "-",
          "startIntronOffset": 2307
        }
      ],
      "hgvs": [
        "XR_946064.1:n.577-2307C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4704,
          "endIntronDirection": "-",
          "endIntronOffset": 2306,
          "referenceAllele": "C",
          "start": 4704,
          "startIntronDirection": "-",
          "startIntronOffset": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023481",
      "geneNCBI_id": 338599,
      "geneSymbol": "DUSP29",
      "hgvs": [
        "XM_011539747.2:c.*3622-2307C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538049.1:n.*3622-2307C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4495,
          "referenceAllele": "G",
          "start": 4494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016000.2:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871489.1:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4790,
          "referenceAllele": "G",
          "start": 4789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016002.1:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871491.1:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4461,
          "referenceAllele": "G",
          "start": 4460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016003.1:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871492.1:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4333,
          "referenceAllele": "G",
          "start": 4332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016004.2:c.3915G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871493.1:p.Glu1305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3946,
          "referenceAllele": "G",
          "start": 3945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016005.2:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871494.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3619,
          "referenceAllele": "G",
          "start": 3618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016006.2:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871495.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3585,
          "referenceAllele": "G",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016008.2:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871497.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3740,
          "referenceAllele": "G",
          "start": 3739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "XM_017016009.1:c.3039G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871498.1:p.Glu1013="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829731268",
      "coordinates": [
        {
          "allele": "A",
          "end": 4591,
          "referenceAllele": "G",
          "start": 4590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_012330.4:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036462.2:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668010",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287239.10:c.4077G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012330.4:c.4077G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287239.4:p.Glu1359="
          },
          "RefSeq": {
            "hgvs": "NP_036462.2:p.Glu1359="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828381161",
      "coordinates": [
        {
          "allele": "A",
          "end": 3553,
          "referenceAllele": "G",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370132.1:c.3039G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357061.1:p.Glu1013="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828381919",
      "coordinates": [
        {
          "allele": "A",
          "end": 2912,
          "referenceAllele": "G",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370133.1:c.2388G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357062.1:p.Glu796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692157"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828382532",
      "coordinates": [
        {
          "allele": "A",
          "end": 3054,
          "referenceAllele": "G",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370134.1:c.1992G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357063.1:p.Glu664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828383142",
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370135.1:c.1734G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357064.1:p.Glu578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828384100",
      "coordinates": [
        {
          "allele": "A",
          "end": 4601,
          "referenceAllele": "G",
          "start": 4600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370136.1:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357065.1:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692160"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828384960",
      "coordinates": [
        {
          "allele": "A",
          "end": 4622,
          "referenceAllele": "G",
          "start": 4621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370137.1:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357066.1:p.Glu1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692161"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828385878",
      "coordinates": [
        {
          "allele": "A",
          "end": 4052,
          "referenceAllele": "G",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370138.1:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357067.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692162"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828386726",
      "coordinates": [
        {
          "allele": "A",
          "end": 3662,
          "referenceAllele": "G",
          "start": 3661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370139.1:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357068.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828387574",
      "coordinates": [
        {
          "allele": "A",
          "end": 3725,
          "referenceAllele": "G",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370140.1:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357069.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692164"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828388422",
      "coordinates": [
        {
          "allele": "A",
          "end": 3655,
          "referenceAllele": "G",
          "start": 3654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370141.1:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357070.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692165"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828389234",
      "coordinates": [
        {
          "allele": "A",
          "end": 3645,
          "referenceAllele": "G",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370142.1:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357071.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828390060",
      "coordinates": [
        {
          "allele": "A",
          "end": 3466,
          "referenceAllele": "G",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370143.1:c.3012G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357072.1:p.Glu1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828390880",
      "coordinates": [
        {
          "allele": "A",
          "end": 3526,
          "referenceAllele": "G",
          "start": 3525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001370144.1:c.3012G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357073.1:p.Glu1004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826395855",
      "coordinates": [
        {
          "allele": "A",
          "end": 4042,
          "referenceAllele": "G",
          "start": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001256468.2:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243397.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714770"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826396703",
      "coordinates": [
        {
          "allele": "A",
          "end": 3715,
          "referenceAllele": "G",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NM_001256469.2:c.3201G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243398.1:p.Glu1067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714771"
    }
  ],
  "type": "nucleotide"
}