{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13263386",
  "communityStandardTitle": [
    "NM_001395015.1(CCDC7):c.2459-7280G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN17493286"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.32993268G>A?assembly=hg19",
        "id": "chr10:g.32993268G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.32704340G>A?assembly=hg38",
        "id": "chr10:g.32704340G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7079041",
        "rs": 7079041
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-32993268-G-A?dataset=gnomad_r2_1",
        "id": "10-32993268-G-A",
        "variant": "10:32993268 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-32704340-G-A?dataset=gnomad_r3",
        "id": "10-32704340-G-A",
        "variant": "10:32704340 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-32704340-G-A?dataset=gnomad_r4",
        "id": "10-32704340-G-A",
        "variant": "10:32704340 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 32704340,
          "referenceAllele": "G",
          "start": 32704339
        }
      ],
      "hgvs": [
        "NC_000010.11:g.32704340G>A",
        "CM000672.2:g.32704340G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 32993268,
          "referenceAllele": "G",
          "start": 32993267
        }
      ],
      "hgvs": [
        "NC_000010.10:g.32993268G>A",
        "CM000672.1:g.32993268G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 33033274,
          "referenceAllele": "G",
          "start": 33033273
        }
      ],
      "hgvs": [
        "NC_000010.9:g.33033274G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "ENST00000375028.9:c.288-7280G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "ENST00000639629.2:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491655.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639629.2:c.2459-7280G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001395015.1:c.2459-7280G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491655.1:n.2459-7280G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001381944.1:n.2459-7280G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 377,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 377,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "ENST00000302316.12:c.378-7280G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS744932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 852,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "ENST00000375025.10:c.853-7280G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS751542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "ENST00000375028.8:c.288-7280G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS751544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1021,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "ENST00000639290.1:n.1022-7280G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2458,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2458,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "ENST00000639629.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491655.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "hgvs": [
        "ENST00000302316.10:c.288-7280G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS255156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 852,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "hgvs": [
        "ENST00000375025.8:c.380-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364165.5:n.380-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 377,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 377,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "hgvs": [
        "ENST00000375028.6:c.308-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364168.3:n.308-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1021,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "hgvs": [
        "ENST00000375030.6:c.404-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364170.2:n.404-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 852,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "NM_024688.2:c.380-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078964.2:n.380-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 846,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_005252593.2:c.380-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252650.1:n.380-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3012,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 3012,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_006717504.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717567.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2554,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_006717505.1:c.2246-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717568.1:n.2246-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2446,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2446,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_006717506.1:c.2138-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717569.1:n.2138-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519663.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517965.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519664.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517966.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2746,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2746,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519665.1:c.2438-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517967.1:n.2438-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519666.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517968.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519667.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517969.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2677,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2677,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519668.1:c.2369-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517970.1:n.2369-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2665,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2665,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519669.1:c.2357-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517971.1:n.2357-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2659,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2659,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519670.1:c.2351-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517972.1:n.2351-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519671.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517973.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2656,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2656,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519672.1:c.2348-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517974.1:n.2348-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2653,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2653,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519673.1:c.2345-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517975.1:n.2345-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519674.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517976.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2557,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2557,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519675.1:c.2249-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517977.1:n.2249-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2653,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2653,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519676.1:c.2345-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517978.1:n.2345-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2545,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2545,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519677.1:c.2237-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517979.1:n.2237-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2542,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2542,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519678.1:c.2234-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517980.1:n.2234-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2236,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2236,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519679.1:c.1928-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517981.1:n.1928-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1908,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519680.1:c.1799-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517982.1:n.1799-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519681.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517983.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1643,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1643,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519682.1:c.1544-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517984.1:n.1544-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1574,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1574,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519683.1:c.1538-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517985.1:n.1538-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519684.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517986.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1784,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519685.1:c.1376-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517987.1:n.1376-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519686.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517988.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 691,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519687.1:c.668-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517989.1:n.668-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3059,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 3059,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "NM_001321115.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308044.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1908,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519680.3:c.1799-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517982.1:n.1799-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1576,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1576,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519683.2:c.1538-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517985.1:n.1538-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519684.3:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517986.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_011519686.2:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517988.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016638.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872127.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "+",
          "endIntronOffset": 9348,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "+",
          "startIntronOffset": 9347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016639.1:c.2458+9348G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872128.1:n.2458+9348G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016640.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872129.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2196,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2196,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016641.1:c.1898-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872130.1:n.1898-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2269,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2269,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016642.1:c.1799-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872131.1:n.1799-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1886,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016643.1:c.1649-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872132.1:n.1649-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016644.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872133.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1697,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1697,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016646.1:c.1544-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872135.1:n.1544-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016647.2:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872136.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1418,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1418,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016648.1:c.1403-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872137.1:n.1403-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1358,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1358,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016649.1:c.1178-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872138.1:n.1178-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 821,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 821,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016652.1:c.701-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872141.1:n.701-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 731,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 731,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_017016653.1:c.629-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872142.1:n.629-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2746,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2746,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_024448165.1:c.2438-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303933.1:n.2438-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2734,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2734,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_024448166.1:c.2426-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303934.1:n.2426-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2554,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_024448167.1:c.1544-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303935.1:n.1544-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2936,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2936,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_024448168.1:c.1544-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303936.1:n.1544-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1275,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_024448169.1:c.491-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303937.1:n.491-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 1113,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "XM_024448170.1:c.488-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303938.1:n.488-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3001,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 3001,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "NM_001321115.2:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308044.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 7279,
          "referenceAllele": "G",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 7280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "NM_001395015.1:c.2459-7280G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381944.1:n.2459-7280G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782615",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639629.2:c.2459-7280G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001395015.1:c.2459-7280G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491655.1:n.2459-7280G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001381944.1:n.2459-7280G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1415,
          "endIntronDirection": "+",
          "endIntronOffset": 18260,
          "referenceAllele": "G",
          "start": 1415,
          "startIntronDirection": "+",
          "startIntronOffset": 18259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026533",
      "geneNCBI_id": 79741,
      "geneSymbol": "CCDC7",
      "hgvs": [
        "NM_001395233.1:c.1174+18260G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001382162.1:n.1174+18260G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782676"
    }
  ],
  "type": "nucleotide"
}