{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3813226",
  "communityStandardTitle": [
    "NM_014780.5(CUL7):c.4417C>T (p.Leu1473=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=896326[alleleid]",
        "alleleId": 896326,
        "preferredName": "NM_014780.5(CUL7):c.4417C>T (p.Leu1473=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/911421",
        "RCV": [
          "RCV001163880",
          "RCV001515430"
        ],
        "variationId": 911421
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-43006603-G-A",
        "id": "6-43006603-G-A",
        "variant": "6:43006603 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43006603G>A?assembly=hg19",
        "id": "chr6:g.43006603G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43038865G>A?assembly=hg38",
        "id": "chr6:g.43038865G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201386557",
        "rs": 201386557
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43006603-G-A?dataset=gnomad_r2_1",
        "id": "6-43006603-G-A",
        "variant": "6:43006603 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43038865-G-A?dataset=gnomad_r3",
        "id": "6-43038865-G-A",
        "variant": "6:43038865 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43038865-G-A?dataset=gnomad_r4",
        "id": "6-43038865-G-A",
        "variant": "6:43038865 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 43038865,
          "referenceAllele": "G",
          "start": 43038864
        }
      ],
      "hgvs": [
        "NC_000006.12:g.43038865G>A",
        "CM000668.2:g.43038865G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 43006603,
          "referenceAllele": "G",
          "start": 43006602
        }
      ],
      "hgvs": [
        "NC_000006.11:g.43006603G>A",
        "CM000668.1:g.43006603G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 43114581,
          "referenceAllele": "G",
          "start": 43114580
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43114581G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20081,
          "referenceAllele": "C",
          "start": 20080
        }
      ],
      "hgvs": [
        "NG_016205.1:g.20081C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2488,
          "referenceAllele": "C",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000478630.2:n.2488C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4700,
          "referenceAllele": "C",
          "start": 4699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674112.2:c.4417C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501166.2:p.Leu1473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000683242.1:n.815C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4719,
          "referenceAllele": "C",
          "start": 4718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000685042.1:c.*1073C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509871.1:n.*1073C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5146,
          "referenceAllele": "C",
          "start": 5145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000686442.1:n.5146C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5256,
          "referenceAllele": "C",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000687225.1:c.*2714C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509364.1:n.*2714C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4700,
          "referenceAllele": "C",
          "start": 4699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000688302.1:n.4700C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4994,
          "referenceAllele": "C",
          "start": 4993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000689256.1:n.4994C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832076"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4617,
          "referenceAllele": "C",
          "start": 4616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000690231.1:c.4417C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508461.1:p.Leu1473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000692002.1:c.430C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508567.1:p.Leu144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4655,
          "referenceAllele": "C",
          "start": 4654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000265348.9:c.4417C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265348.4:p.Leu1473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265348.9:c.4417C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014780.5:c.4417C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265348.4:p.Leu1473="
          },
          "RefSeq": {
            "hgvs": "NP_055595.2:p.Leu1473="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2288,
          "referenceAllele": "C",
          "start": 2287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000673725.1:c.2288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5256,
          "referenceAllele": "C",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000673753.1:n.5256C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4843,
          "referenceAllele": "C",
          "start": 4842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674100.1:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501292.1:p.Leu1505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2909,
          "referenceAllele": "C",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674112.1:c.2909C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4701,
          "referenceAllele": "C",
          "start": 4700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674134.1:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501068.1:p.Leu1505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4503,
          "referenceAllele": "C",
          "start": 4502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000265348.7:c.4417C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265348.3:p.Leu1473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4756,
          "referenceAllele": "C",
          "start": 4755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000535468.1:c.4669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438788.1:p.Leu1557="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4756,
          "referenceAllele": "C",
          "start": 4755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001168370.1:c.4669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161842.1:p.Leu1557="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829786053",
      "coordinates": [
        {
          "allele": "T",
          "end": 4749,
          "referenceAllele": "C",
          "start": 4748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_014780.4:c.4417C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055595.2:p.Leu1473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4609,
          "referenceAllele": "C",
          "start": 4608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_005249503.1:c.4573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249560.1:p.Leu1525="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4850,
          "referenceAllele": "C",
          "start": 4849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_006715285.1:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715348.1:p.Leu1505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4705,
          "referenceAllele": "C",
          "start": 4704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515019.1:c.4669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513321.1:p.Leu1557="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4609,
          "referenceAllele": "C",
          "start": 4608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515020.1:c.4573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513322.1:p.Leu1525="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2791,
          "referenceAllele": "C",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515021.1:c.2278C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513323.1:p.Leu760="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4611,
          "referenceAllele": "C",
          "start": 4610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_005249503.3:c.4573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249560.1:p.Leu1525="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4845,
          "referenceAllele": "C",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_006715285.2:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715348.1:p.Leu1505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4707,
          "referenceAllele": "C",
          "start": 4706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515019.2:c.4669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513321.1:p.Leu1557="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4610,
          "referenceAllele": "C",
          "start": 4609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515020.2:c.4573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513322.1:p.Leu1525="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4735,
          "referenceAllele": "C",
          "start": 4734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011533.1:c.4696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867022.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4734,
          "referenceAllele": "C",
          "start": 4733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011534.1:c.4696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867023.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4638,
          "referenceAllele": "C",
          "start": 4637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011535.1:c.4600C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867024.1:p.Leu1534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4872,
          "referenceAllele": "C",
          "start": 4871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011536.2:c.4540C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867025.1:p.Leu1514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4845,
          "referenceAllele": "C",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011537.2:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867026.1:p.Leu1505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4776,
          "referenceAllele": "C",
          "start": 4775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011538.2:c.4444C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867027.1:p.Leu1482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4749,
          "referenceAllele": "C",
          "start": 4748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011539.2:c.4417C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867028.1:p.Leu1473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826055850",
      "coordinates": [
        {
          "allele": "T",
          "end": 4662,
          "referenceAllele": "C",
          "start": 4661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001168370.2:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161842.2:p.Leu1505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828562884",
      "coordinates": [
        {
          "allele": "T",
          "end": 4751,
          "referenceAllele": "C",
          "start": 4750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374872.1:c.4513C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361801.1:p.Leu1505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828563389",
      "coordinates": [
        {
          "allele": "T",
          "end": 4655,
          "referenceAllele": "C",
          "start": 4654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374873.1:c.4417C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361802.1:p.Leu1473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828563945",
      "coordinates": [
        {
          "allele": "T",
          "end": 4652,
          "referenceAllele": "C",
          "start": 4651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374874.1:c.4414C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361803.1:p.Leu1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829786053",
      "coordinates": [
        {
          "allele": "T",
          "end": 4655,
          "referenceAllele": "C",
          "start": 4654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_014780.5:c.4417C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055595.2:p.Leu1473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265348.9:c.4417C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014780.5:c.4417C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265348.4:p.Leu1473="
          },
          "RefSeq": {
            "hgvs": "NP_055595.2:p.Leu1473="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}