{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3813491",
  "communityStandardTitle": [
    "NM_014780.5(CUL7):c.3432G>A (p.Thr1144=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=252366[alleleid]",
        "alleleId": 252366,
        "preferredName": "NM_014780.5(CUL7):c.3432G>A (p.Thr1144=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/260439",
        "RCV": [
          "RCV000246838",
          "RCV000270729",
          "RCV000725383"
        ],
        "variationId": 260439
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-43010842-C-T",
        "id": "6-43010842-C-T",
        "variant": "6:43010842 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43010842C>T?assembly=hg19",
        "id": "chr6:g.43010842C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43043104C>T?assembly=hg38",
        "id": "chr6:g.43043104C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144556973",
        "rs": 144556973
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43010842-C-T?dataset=gnomad_r2_1",
        "id": "6-43010842-C-T",
        "variant": "6:43010842 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43043104-C-T?dataset=gnomad_r3",
        "id": "6-43043104-C-T",
        "variant": "6:43043104 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43043104-C-T?dataset=gnomad_r4",
        "id": "6-43043104-C-T",
        "variant": "6:43043104 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43043104,
          "referenceAllele": "C",
          "start": 43043103
        }
      ],
      "hgvs": [
        "NC_000006.12:g.43043104C>T",
        "CM000668.2:g.43043104C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43010842,
          "referenceAllele": "C",
          "start": 43010841
        }
      ],
      "hgvs": [
        "NC_000006.11:g.43010842C>T",
        "CM000668.1:g.43010842C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43118820,
          "referenceAllele": "C",
          "start": 43118819
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43118820C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15842,
          "referenceAllele": "G",
          "start": 15841
        }
      ],
      "hgvs": [
        "NG_016205.1:g.15842G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1503,
          "referenceAllele": "G",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000478630.2:n.1503G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3715,
          "referenceAllele": "G",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674112.2:c.3432G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501166.2:p.Thr1144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3734,
          "referenceAllele": "G",
          "start": 3733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000685042.1:c.*88G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509871.1:n.*88G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3993,
          "referenceAllele": "G",
          "start": 3992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000686442.1:n.3993G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4271,
          "referenceAllele": "G",
          "start": 4270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000687225.1:c.*1729G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509364.1:n.*1729G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3715,
          "referenceAllele": "G",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000688302.1:n.3715G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4009,
          "referenceAllele": "G",
          "start": 4008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000689256.1:n.4009G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3632,
          "referenceAllele": "G",
          "start": 3631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000690231.1:c.3432G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508461.1:p.Thr1144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3670,
          "referenceAllele": "G",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000265348.9:c.3432G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265348.4:p.Thr1144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265348.9:c.3432G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014780.5:c.3432G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265348.4:p.Thr1144="
          },
          "RefSeq": {
            "hgvs": "NP_055595.2:p.Thr1144="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000673725.1:c.1381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4271,
          "referenceAllele": "G",
          "start": 4270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000673753.1:n.4271G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3858,
          "referenceAllele": "G",
          "start": 3857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674100.1:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501292.1:p.Thr1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1924,
          "referenceAllele": "G",
          "start": 1923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674112.1:c.1924G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3716,
          "referenceAllele": "G",
          "start": 3715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000674134.1:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501068.1:p.Thr1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3518,
          "referenceAllele": "G",
          "start": 3517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000265348.7:c.3432G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265348.3:p.Thr1144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021624",
      "geneNCBI_id": 89953,
      "geneSymbol": "KLC4",
      "hgvs": [
        "ENST00000467906.5:c.-957C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418759.1:n.-957C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3771,
          "referenceAllele": "G",
          "start": 3770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "ENST00000535468.1:c.3684G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438788.1:p.Thr1228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3771,
          "referenceAllele": "G",
          "start": 3770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001168370.1:c.3684G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161842.1:p.Thr1228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829785900",
      "coordinates": [
        {
          "allele": "A",
          "end": 3764,
          "referenceAllele": "G",
          "start": 3763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_014780.4:c.3432G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055595.2:p.Thr1144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3624,
          "referenceAllele": "G",
          "start": 3623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_005249503.1:c.3588G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249560.1:p.Thr1196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3865,
          "referenceAllele": "G",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_006715285.1:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715348.1:p.Thr1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3720,
          "referenceAllele": "G",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515019.1:c.3684G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513321.1:p.Thr1228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3624,
          "referenceAllele": "G",
          "start": 3623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515020.1:c.3588G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513322.1:p.Thr1196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1806,
          "referenceAllele": "G",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515021.1:c.1293G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513323.1:p.Thr431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3626,
          "referenceAllele": "G",
          "start": 3625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_005249503.3:c.3588G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249560.1:p.Thr1196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3860,
          "referenceAllele": "G",
          "start": 3859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_006715285.2:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715348.1:p.Thr1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3722,
          "referenceAllele": "G",
          "start": 3721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515019.2:c.3684G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513321.1:p.Thr1228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3625,
          "referenceAllele": "G",
          "start": 3624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_011515020.2:c.3588G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513322.1:p.Thr1196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3750,
          "referenceAllele": "G",
          "start": 3749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011533.1:c.3711G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867022.1:p.Thr1237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3749,
          "referenceAllele": "G",
          "start": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011534.1:c.3711G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867023.1:p.Thr1237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3653,
          "referenceAllele": "G",
          "start": 3652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011535.1:c.3615G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867024.1:p.Thr1205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3887,
          "referenceAllele": "G",
          "start": 3886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011536.2:c.3555G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867025.1:p.Thr1185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3860,
          "referenceAllele": "G",
          "start": 3859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011537.2:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867026.1:p.Thr1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3791,
          "referenceAllele": "G",
          "start": 3790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011538.2:c.3459G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867027.1:p.Thr1153="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3764,
          "referenceAllele": "G",
          "start": 3763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "XM_017011539.2:c.3432G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867028.1:p.Thr1144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826055748",
      "coordinates": [
        {
          "allele": "A",
          "end": 3677,
          "referenceAllele": "G",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001168370.2:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161842.2:p.Thr1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828562847",
      "coordinates": [
        {
          "allele": "A",
          "end": 3766,
          "referenceAllele": "G",
          "start": 3765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374872.1:c.3528G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361801.1:p.Thr1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828563287",
      "coordinates": [
        {
          "allele": "A",
          "end": 3670,
          "referenceAllele": "G",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374873.1:c.3432G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361802.1:p.Thr1144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828563843",
      "coordinates": [
        {
          "allele": "A",
          "end": 3667,
          "referenceAllele": "G",
          "start": 3666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_001374874.1:c.3429G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361803.1:p.Thr1143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829785900",
      "coordinates": [
        {
          "allele": "A",
          "end": 3670,
          "referenceAllele": "G",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021024",
      "geneNCBI_id": 9820,
      "geneSymbol": "CUL7",
      "hgvs": [
        "NM_014780.5:c.3432G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055595.2:p.Thr1144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265348.9:c.3432G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014780.5:c.3432G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265348.4:p.Thr1144="
          },
          "RefSeq": {
            "hgvs": "NP_055595.2:p.Thr1144="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}