{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA63557824",
  "communityStandardTitle": [
    "NM_001302769.2(PARD3B):c.2140+2593G>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.206060637G>C?assembly=hg19",
        "id": "chr2:g.206060637G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.205195913G>C?assembly=hg38",
        "id": "chr2:g.205195913G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10153620",
        "rs": 10153620
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-206060637-G-C?dataset=gnomad_r2_1",
        "id": "2-206060637-G-C",
        "variant": "2:206060637 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-205195913-G-C?dataset=gnomad_r3",
        "id": "2-205195913-G-C",
        "variant": "2:205195913 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-205195913-G-C?dataset=gnomad_r4",
        "id": "2-205195913-G-C",
        "variant": "2:205195913 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 205195913,
          "referenceAllele": "G",
          "start": 205195912
        }
      ],
      "hgvs": [
        "NC_000002.12:g.205195913G>C",
        "CM000664.2:g.205195913G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 206060637,
          "referenceAllele": "G",
          "start": 206060636
        }
      ],
      "hgvs": [
        "NC_000002.11:g.206060637G>C",
        "CM000664.1:g.206060637G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 205768882,
          "referenceAllele": "G",
          "start": 205768881
        }
      ],
      "hgvs": [
        "NC_000002.10:g.205768882G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2665,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2665,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "ENST00000406610.7:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385848.2:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406610.7:c.2140+2593G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001302769.2:c.2140+2593G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385848.2:n.2140+2593G>C"
          },
          "RefSeq": {
            "hgvs": "NP_001289698.1:n.2140+2593G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2140,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2140,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "ENST00000349953.7:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340280.3:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2140,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2140,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "ENST00000351153.5:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317261.2:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1954,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 1954,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "ENST00000358768.6:c.1954+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351618.2:n.1954+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2347,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2347,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "ENST00000406610.6:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385848.2:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2300,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2300,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "ENST00000462231.5:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473503.1:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1732,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 1732,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "ENST00000613457.4:c.1732+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484434.1:n.1732+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 1918,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "ENST00000614500.3:c.1918+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481918.1:n.1918+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 1918,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "ENST00000622699.2:c.1918+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482649.1:n.1918+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2347,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2347,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "NM_001302769.1:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289698.1:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2347,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2347,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "NM_057177.6:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_476518.4:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2161,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2161,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "NM_152526.5:c.1954+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689739.4:n.1954+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2347,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2347,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "NM_205863.3:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_995585.2:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2229,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2229,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_011510550.1:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508852.1:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2229,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2229,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_011510551.1:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508853.1:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2179,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2179,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_011510552.1:c.2164+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508854.1:n.2164+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077815"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2179,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2179,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_011510553.1:c.2164+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508855.1:n.2164+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2690,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2690,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_011510552.2:c.2164+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508854.1:n.2164+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7413,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 7413,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_011510553.2:c.2164+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508855.1:n.2164+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2637,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2637,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_017003283.1:c.2104+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858772.1:n.2104+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5683,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 5683,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_017003284.1:c.2074+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858773.1:n.2074+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7234,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 7234,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_017003285.1:c.1978+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858774.1:n.1978+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5579,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 5579,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_017003286.1:c.1972+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858775.1:n.1972+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7416,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 7416,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_017003287.1:c.2164+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858776.1:n.2164+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7418,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 7418,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_017003288.1:c.2164+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858777.1:n.2164+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 1794,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_017003289.1:c.1639+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858778.1:n.1639+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2294,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2294,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_017003290.1:c.1543+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858779.1:n.1543+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2166,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2166,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_017003291.1:c.1543+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858780.1:n.1543+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2228,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2228,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_017003292.1:c.1543+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858781.1:n.1543+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1732,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 1732,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "XM_017003293.1:c.1543+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858782.1:n.1543+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2665,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2665,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "NM_001302769.2:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289698.1:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406610.7:c.2140+2593G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001302769.2:c.2140+2593G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385848.2:n.2140+2593G>C"
          },
          "RefSeq": {
            "hgvs": "NP_001289698.1:n.2140+2593G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2665,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2665,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "NM_057177.7:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_476518.4:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2479,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2479,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "NM_152526.6:c.1954+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689739.4:n.1954+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2665,
          "endIntronDirection": "+",
          "endIntronOffset": 2593,
          "referenceAllele": "G",
          "start": 2665,
          "startIntronDirection": "+",
          "startIntronOffset": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014446",
      "geneNCBI_id": 117583,
      "geneSymbol": "PARD3B",
      "hgvs": [
        "NM_205863.4:c.2140+2593G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_995585.2:n.2140+2593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701668"
    }
  ],
  "type": "nucleotide"
}