{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279458",
  "communityStandardTitle": [
    "NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1198889",
        "active": true,
        "id": "COSM1198889"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214222[alleleid]",
        "alleleId": 214222,
        "preferredName": "NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217584",
        "RCV": [
          "RCV000201655",
          "RCV000362856"
        ],
        "variationId": 217584
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37224781G>A?assembly=hg19",
        "id": "chr5:g.37224781G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37224679G>A?assembly=hg38",
        "id": "chr5:g.37224679G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225163",
        "rs": 863225163
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37224781-G-A?dataset=gnomad_r2_1",
        "id": "5-37224781-G-A",
        "variant": "5:37224781 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37224679-G-A?dataset=gnomad_r3",
        "id": "5-37224679-G-A",
        "variant": "5:37224679 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37224679-G-A?dataset=gnomad_r4",
        "id": "5-37224679-G-A",
        "variant": "5:37224679 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37224679,
          "referenceAllele": "G",
          "start": 37224678
        }
      ],
      "hgvs": [
        "NC_000005.10:g.37224679G>A",
        "CM000667.2:g.37224679G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37224781,
          "referenceAllele": "G",
          "start": 37224780
        }
      ],
      "hgvs": [
        "NC_000005.9:g.37224781G>A",
        "CM000667.1:g.37224781G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37260538,
          "referenceAllele": "G",
          "start": 37260537
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37260538G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29750,
          "referenceAllele": "C",
          "start": 29749
        }
      ],
      "hgvs": [
        "NG_032772.1:g.29750C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29750,
          "referenceAllele": "C",
          "start": 29749
        }
      ],
      "hgvs": [
        "NG_032772.2:g.29750C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673869"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2086,
          "referenceAllele": "C",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000425232.7:c.2086C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2532,
          "referenceAllele": "C",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000651892.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498265.2:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771916",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651892.2:c.2353C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001384732.1:c.2353C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498265.2:p.Arg785Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001371661.1:p.Arg785Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2423,
          "referenceAllele": "C",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000675547.1:n.2423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000676290.1:n.2428C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2584,
          "referenceAllele": "C",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000425232.6:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389014.2:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2447,
          "referenceAllele": "C",
          "start": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000508244.5:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421690.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2584,
          "referenceAllele": "C",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NM_023073.3:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075561.3:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248345.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248402.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248346.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248403.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248347.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248404.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248349.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248406.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248350.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248407.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_006714489.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714552.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2481,
          "referenceAllele": "C",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514085.1:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512387.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2571,
          "referenceAllele": "C",
          "start": 2570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514086.1:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512388.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514087.1:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512389.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514088.1:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512390.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514089.1:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512391.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2447,
          "referenceAllele": "C",
          "start": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514090.1:c.2035C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512392.1:p.Arg679Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514091.1:c.1681C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512393.1:p.Arg561Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2529,
          "referenceAllele": "C",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514092.1:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512394.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2534,
          "referenceAllele": "C",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514093.1:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512395.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_427661.2:n.2528C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_925644.1:n.2528C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2655,
          "referenceAllele": "C",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248345.4:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248402.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2655,
          "referenceAllele": "C",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248346.4:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248403.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2655,
          "referenceAllele": "C",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248347.4:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248404.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2655,
          "referenceAllele": "C",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248349.4:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248406.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2655,
          "referenceAllele": "C",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248350.4:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248407.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2704,
          "referenceAllele": "C",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514085.3:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512387.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2590,
          "referenceAllele": "C",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514086.3:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512388.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514087.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512389.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514088.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512390.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514089.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512391.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2465,
          "referenceAllele": "C",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514090.3:c.2035C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512392.1:p.Arg679Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514092.2:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512394.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2303,
          "referenceAllele": "C",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009760.1:c.2164C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865249.1:p.Arg722Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2330,
          "referenceAllele": "C",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009761.2:c.2164C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865250.1:p.Arg722Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1903,
          "referenceAllele": "C",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009763.1:c.1360C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865252.1:p.Arg454Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009765.1:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865254.1:p.Arg389Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2568,
          "referenceAllele": "C",
          "start": 2567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446183.1:c.2164C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301951.1:p.Arg722Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2508,
          "referenceAllele": "C",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446184.1:c.2035C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301952.1:p.Arg679Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2401,
          "referenceAllele": "C",
          "start": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446185.1:c.1681C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301953.1:p.Arg561Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "referenceAllele": "C",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446186.1:c.1360C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301954.1:p.Arg454Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_001742208.1:n.2577C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_002956171.1:n.2577C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_925644.2:n.2577C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2532,
          "referenceAllele": "C",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NM_001384732.1:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371661.1:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651892.2:c.2353C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001384732.1:c.2353C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498265.2:p.Arg785Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001371661.1:p.Arg785Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2532,
          "referenceAllele": "C",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NM_023073.4:c.2353C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075561.3:p.Arg785Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728617"
    }
  ],
  "type": "nucleotide"
}