{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3813143",
  "communityStandardTitle": [
    "NM_014780.5(CUL7):c.4659G>A (p.Glu1553=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274980[alleleid]",
        "alleleId": 274980,
        "preferredName": "NM_014780.5(CUL7):c.4659G>A (p.Glu1553=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290743",
        "RCV": [
          "RCV000369713",
          "RCV001163875",
          "RCV003910041"
        ],
        "variationId": 290743
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-43006119-C-T",
        "id": "6-43006119-C-T",
        "variant": "6:43006119 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43006119C>T?assembly=hg19",
        "id": "chr6:g.43006119C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43038381C>T?assembly=hg38",
        "id": "chr6:g.43038381C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139243761",
        "rs": 139243761
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43006119-C-T?dataset=gnomad_r2_1",
        "id": "6-43006119-C-T",
        "variant": "6:43006119 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43038381-C-T?dataset=gnomad_r3",
        "id": "6-43038381-C-T",
        "variant": "6:43038381 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43038381-C-T?dataset=gnomad_r4",
        "id": "6-43038381-C-T",
        "variant": "6:43038381 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43038381,
          "referenceAllele": "C",
          "start": 43038380
        }
      ],
      "hgvs": [
        "NC_000006.12:g.43038381C>T",
        "CM000668.2:g.43038381C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43006119,
          "referenceAllele": "C",
          "start": 43006118
        }
      ],
      "hgvs": [
        "NC_000006.11:g.43006119C>T",
        "CM000668.1:g.43006119C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43114097,
          "referenceAllele": "C",
          "start": 43114096
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43114097C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20565,
          "referenceAllele": "G",
          "start": 20564
        }
      ],
      "hgvs": [
        "NG_016205.1:g.20565G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2879,
          "referenceAllele": "G",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000478630.2:n.2879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4931,
          "referenceAllele": "G",
          "start": 4930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674112.2:c.*1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501166.2:n.*1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000683242.1:n.1206G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4961,
          "referenceAllele": "G",
          "start": 4960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000685042.1:c.*1315G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509871.1:n.*1315G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5537,
          "referenceAllele": "G",
          "start": 5536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000686442.1:n.5537G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5487,
          "referenceAllele": "G",
          "start": 5486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000687225.1:c.*2945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509364.1:n.*2945G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5080,
          "referenceAllele": "G",
          "start": 5079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000688302.1:n.5080G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5236,
          "referenceAllele": "G",
          "start": 5235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000689256.1:n.5236G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4859,
          "referenceAllele": "G",
          "start": 4858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000690231.1:c.4659G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508461.1:p.Glu1553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000692002.1:c.684G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508567.1:p.Glu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4897,
          "referenceAllele": "G",
          "start": 4896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000265348.9:c.4659G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265348.4:p.Glu1553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265348.9:c.4659G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014780.5:c.4659G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265348.4:p.Glu1553="
          },
          "RefSeq": {
            "hgvs": "NP_055595.2:p.Glu1553="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2519,
          "referenceAllele": "G",
          "start": 2518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000673725.1:c.2519G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5487,
          "referenceAllele": "G",
          "start": 5486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000673753.1:n.5487G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5085,
          "referenceAllele": "G",
          "start": 5084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674100.1:c.4755G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501292.1:p.Glu1585="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3140,
          "referenceAllele": "G",
          "start": 3139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674112.1:c.3140G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4943,
          "referenceAllele": "G",
          "start": 4942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674134.1:c.4755G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501068.1:p.Glu1585="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4745,
          "referenceAllele": "G",
          "start": 4744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000265348.7:c.4659G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265348.3:p.Glu1553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4998,
          "referenceAllele": "G",
          "start": 4997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000535468.1:c.4911G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438788.1:p.Glu1637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4998,
          "referenceAllele": "G",
          "start": 4997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001168370.1:c.4911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161842.1:p.Glu1637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829786097",
      "coordinates": [
        {
          "allele": "A",
          "end": 4991,
          "referenceAllele": "G",
          "start": 4990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_014780.4:c.4659G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055595.2:p.Glu1553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4851,
          "referenceAllele": "G",
          "start": 4850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_005249503.1:c.4815G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249560.1:p.Glu1605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5104,
          "referenceAllele": "G",
          "start": 5103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_006715285.1:c.4767G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715348.1:p.Glu1589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4959,
          "referenceAllele": "G",
          "start": 4958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515019.1:c.4923G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513321.1:p.Glu1641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4863,
          "referenceAllele": "G",
          "start": 4862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515020.1:c.4827G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513322.1:p.Glu1609="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3045,
          "referenceAllele": "G",
          "start": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515021.1:c.2532G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513323.1:p.Glu844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4853,
          "referenceAllele": "G",
          "start": 4852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_005249503.3:c.4815G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249560.1:p.Glu1605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5099,
          "referenceAllele": "G",
          "start": 5098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_006715285.2:c.4767G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715348.1:p.Glu1589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4961,
          "referenceAllele": "G",
          "start": 4960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515019.2:c.4923G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513321.1:p.Glu1641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4864,
          "referenceAllele": "G",
          "start": 4863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515020.2:c.4827G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513322.1:p.Glu1609="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4989,
          "referenceAllele": "G",
          "start": 4988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011533.1:c.4950G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867022.1:p.Glu1650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4976,
          "referenceAllele": "G",
          "start": 4975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011534.1:c.4938G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867023.1:p.Glu1646="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4892,
          "referenceAllele": "G",
          "start": 4891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011535.1:c.4854G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867024.1:p.Glu1618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5126,
          "referenceAllele": "G",
          "start": 5125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011536.2:c.4794G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867025.1:p.Glu1598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5087,
          "referenceAllele": "G",
          "start": 5086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011537.2:c.4755G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867026.1:p.Glu1585="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5030,
          "referenceAllele": "G",
          "start": 5029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011538.2:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867027.1:p.Glu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5003,
          "referenceAllele": "G",
          "start": 5002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011539.2:c.4671G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867028.1:p.Glu1557="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826055880",
      "coordinates": [
        {
          "allele": "A",
          "end": 4904,
          "referenceAllele": "G",
          "start": 4903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001168370.2:c.4755G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161842.2:p.Glu1585="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828562899",
      "coordinates": [
        {
          "allele": "A",
          "end": 4993,
          "referenceAllele": "G",
          "start": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374872.1:c.4755G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361801.1:p.Glu1585="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828563419",
      "coordinates": [
        {
          "allele": "A",
          "end": 4909,
          "referenceAllele": "G",
          "start": 4908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374873.1:c.4671G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361802.1:p.Glu1557="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828563976",
      "coordinates": [
        {
          "allele": "A",
          "end": 4894,
          "referenceAllele": "G",
          "start": 4893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374874.1:c.4656G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361803.1:p.Glu1552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829786097",
      "coordinates": [
        {
          "allele": "A",
          "end": 4897,
          "referenceAllele": "G",
          "start": 4896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_014780.5:c.4659G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055595.2:p.Glu1553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265348.9:c.4659G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014780.5:c.4659G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265348.4:p.Glu1553="
          },
          "RefSeq": {
            "hgvs": "NP_055595.2:p.Glu1553="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}