{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3813402",
  "communityStandardTitle": [
    "NM_014780.5(CUL7):c.3747G>A (p.Leu1249=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266328[alleleid]",
        "alleleId": 266328,
        "preferredName": "NM_014780.5(CUL7):c.3747G>A (p.Leu1249=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282091",
        "RCV": [
          "RCV000290074",
          "RCV001160287",
          "RCV003930057"
        ],
        "variationId": 282091
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-43008712-C-T",
        "id": "6-43008712-C-T",
        "variant": "6:43008712 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43008712C>T?assembly=hg19",
        "id": "chr6:g.43008712C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43040974C>T?assembly=hg38",
        "id": "chr6:g.43040974C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141211365",
        "rs": 141211365
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43008712-C-T?dataset=gnomad_r2_1",
        "id": "6-43008712-C-T",
        "variant": "6:43008712 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43040974-C-T?dataset=gnomad_r3",
        "id": "6-43040974-C-T",
        "variant": "6:43040974 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43040974-C-T?dataset=gnomad_r4",
        "id": "6-43040974-C-T",
        "variant": "6:43040974 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43040974,
          "referenceAllele": "C",
          "start": 43040973
        }
      ],
      "hgvs": [
        "NC_000006.12:g.43040974C>T",
        "CM000668.2:g.43040974C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43008712,
          "referenceAllele": "C",
          "start": 43008711
        }
      ],
      "hgvs": [
        "NC_000006.11:g.43008712C>T",
        "CM000668.1:g.43008712C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43116690,
          "referenceAllele": "C",
          "start": 43116689
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43116690C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17972,
          "referenceAllele": "G",
          "start": 17971
        }
      ],
      "hgvs": [
        "NG_016205.1:g.17972G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1818,
          "referenceAllele": "G",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000478630.2:n.1818G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4030,
          "referenceAllele": "G",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674112.2:c.3747G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501166.2:p.Leu1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4049,
          "referenceAllele": "G",
          "start": 4048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000685042.1:c.*403G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509871.1:n.*403G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4308,
          "referenceAllele": "G",
          "start": 4307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000686442.1:n.4308G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4586,
          "referenceAllele": "G",
          "start": 4585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000687225.1:c.*2044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509364.1:n.*2044G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4030,
          "referenceAllele": "G",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000688302.1:n.4030G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4324,
          "referenceAllele": "G",
          "start": 4323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000689256.1:n.4324G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3947,
          "referenceAllele": "G",
          "start": 3946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000690231.1:c.3747G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508461.1:p.Leu1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3985,
          "referenceAllele": "G",
          "start": 3984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000265348.9:c.3747G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265348.4:p.Leu1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265348.9:c.3747G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014780.5:c.3747G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265348.4:p.Leu1249="
          },
          "RefSeq": {
            "hgvs": "NP_055595.2:p.Leu1249="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000673725.1:c.1618G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4586,
          "referenceAllele": "G",
          "start": 4585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000673753.1:n.4586G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4173,
          "referenceAllele": "G",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674100.1:c.3843G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501292.1:p.Leu1281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2239,
          "referenceAllele": "G",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674112.1:c.2239G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4031,
          "referenceAllele": "G",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674134.1:c.3843G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501068.1:p.Leu1281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3833,
          "referenceAllele": "G",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000265348.7:c.3747G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265348.3:p.Leu1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "referenceAllele": "C",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021624",
      "geneNCBI_id": 89953,
      "geneSymbol": "KLC4",
      "hgvs": [
        "ENST00000467906.5:c.-1154C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418759.1:n.-1154C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4086,
          "referenceAllele": "G",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000535468.1:c.3999G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438788.1:p.Leu1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4086,
          "referenceAllele": "G",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001168370.1:c.3999G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161842.1:p.Leu1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829785938",
      "coordinates": [
        {
          "allele": "A",
          "end": 4079,
          "referenceAllele": "G",
          "start": 4078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_014780.4:c.3747G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055595.2:p.Leu1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3939,
          "referenceAllele": "G",
          "start": 3938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_005249503.1:c.3903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249560.1:p.Leu1301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4180,
          "referenceAllele": "G",
          "start": 4179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_006715285.1:c.3843G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715348.1:p.Leu1281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4035,
          "referenceAllele": "G",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515019.1:c.3999G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513321.1:p.Leu1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3939,
          "referenceAllele": "G",
          "start": 3938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515020.1:c.3903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513322.1:p.Leu1301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515021.1:c.1608G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513323.1:p.Leu536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3941,
          "referenceAllele": "G",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_005249503.3:c.3903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249560.1:p.Leu1301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4175,
          "referenceAllele": "G",
          "start": 4174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_006715285.2:c.3843G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715348.1:p.Leu1281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4037,
          "referenceAllele": "G",
          "start": 4036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515019.2:c.3999G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513321.1:p.Leu1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3940,
          "referenceAllele": "G",
          "start": 3939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515020.2:c.3903G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513322.1:p.Leu1301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4065,
          "referenceAllele": "G",
          "start": 4064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011533.1:c.4026G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867022.1:p.Leu1342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4064,
          "referenceAllele": "G",
          "start": 4063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011534.1:c.4026G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867023.1:p.Leu1342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "referenceAllele": "G",
          "start": 3967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011535.1:c.3930G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867024.1:p.Leu1310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4202,
          "referenceAllele": "G",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011536.2:c.3870G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867025.1:p.Leu1290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4175,
          "referenceAllele": "G",
          "start": 4174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011537.2:c.3843G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867026.1:p.Leu1281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4106,
          "referenceAllele": "G",
          "start": 4105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011538.2:c.3774G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867027.1:p.Leu1258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4079,
          "referenceAllele": "G",
          "start": 4078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011539.2:c.3747G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867028.1:p.Leu1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826055777",
      "coordinates": [
        {
          "allele": "A",
          "end": 3992,
          "referenceAllele": "G",
          "start": 3991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001168370.2:c.3843G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161842.2:p.Leu1281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828562856",
      "coordinates": [
        {
          "allele": "A",
          "end": 4081,
          "referenceAllele": "G",
          "start": 4080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374872.1:c.3843G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361801.1:p.Leu1281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828563316",
      "coordinates": [
        {
          "allele": "A",
          "end": 3985,
          "referenceAllele": "G",
          "start": 3984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374873.1:c.3747G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361802.1:p.Leu1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828563872",
      "coordinates": [
        {
          "allele": "A",
          "end": 3982,
          "referenceAllele": "G",
          "start": 3981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374874.1:c.3744G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361803.1:p.Leu1248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829785938",
      "coordinates": [
        {
          "allele": "A",
          "end": 3985,
          "referenceAllele": "G",
          "start": 3984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_014780.5:c.3747G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055595.2:p.Leu1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265348.9:c.3747G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014780.5:c.3747G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265348.4:p.Leu1249="
          },
          "RefSeq": {
            "hgvs": "NP_055595.2:p.Leu1249="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}