{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3238727",
  "communityStandardTitle": [
    "NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=299603[alleleid]",
        "alleleId": 299603,
        "preferredName": "NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/353453",
        "RCV": [
          "RCV000366707",
          "RCV000703873"
        ],
        "variationId": 353453
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-37185065-G-A",
        "id": "5-37185065-G-A",
        "variant": "5:37185065 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37185065G>A?assembly=hg19",
        "id": "chr5:g.37185065G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37184963G>A?assembly=hg38",
        "id": "chr5:g.37184963G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/183021118",
        "rs": 183021118
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37185065-G-A?dataset=gnomad_r2_1",
        "id": "5-37185065-G-A",
        "variant": "5:37185065 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37184963-G-A?dataset=gnomad_r3",
        "id": "5-37184963-G-A",
        "variant": "5:37184963 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-37184963-G-A?dataset=gnomad_r4",
        "id": "5-37184963-G-A",
        "variant": "5:37184963 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37184963,
          "referenceAllele": "G",
          "start": 37184962
        }
      ],
      "hgvs": [
        "NC_000005.10:g.37184963G>A",
        "CM000667.2:g.37184963G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37185065,
          "referenceAllele": "G",
          "start": 37185064
        }
      ],
      "hgvs": [
        "NC_000005.9:g.37185065G>A",
        "CM000667.1:g.37185065G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37220822,
          "referenceAllele": "G",
          "start": 37220821
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37220822G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69466,
          "referenceAllele": "C",
          "start": 69465
        }
      ],
      "hgvs": [
        "NG_032772.1:g.69466C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69466,
          "referenceAllele": "C",
          "start": 69465
        }
      ],
      "hgvs": [
        "NG_032772.2:g.69466C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673869"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3810,
          "referenceAllele": "C",
          "start": 3809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000425232.7:c.3810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4485,
          "referenceAllele": "C",
          "start": 4484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000651892.2:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498265.2:p.Pro1436Ser",
        "hgvsWellDefined": "ENSP00000498265.2:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771916",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651892.2:c.4306C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001384732.1:c.4306C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498265.2:p.Pro1436Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001371661.1:p.Pro1436Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4537,
          "referenceAllele": "C",
          "start": 4536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000425232.6:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389014.2:p.Pro1436Ser",
        "hgvsWellDefined": "ENSP00000389014.2:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4400,
          "referenceAllele": "C",
          "start": 4399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000508244.5:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421690.1:p.Pro1436Ser",
        "hgvsWellDefined": "ENSP00000421690.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000509849.5:c.1321C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426337.1:p.Pro441Ser",
        "hgvsWellDefined": "ENSP00000426337.1:p.Pro441Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "C",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "ENST00000514429.5:c.1450C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424223.1:p.Pro484Ser",
        "hgvsWellDefined": "ENSP00000424223.1:p.Pro484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645405919",
      "coordinates": [
        {
          "allele": "T",
          "end": 4537,
          "referenceAllele": "C",
          "start": 4536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NM_023073.3:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075561.3:p.Pro1436Ser",
        "hgvsWellDefined": "NP_075561.3:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4481,
          "referenceAllele": "C",
          "start": 4480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248345.2:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248402.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_005248402.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4481,
          "referenceAllele": "C",
          "start": 4480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248346.2:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248403.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_005248403.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4481,
          "referenceAllele": "C",
          "start": 4480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248347.2:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248404.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_005248404.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4481,
          "referenceAllele": "C",
          "start": 4480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248349.2:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248406.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_005248406.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4352,
          "referenceAllele": "C",
          "start": 4351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248350.2:c.4177C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248407.1:p.Pro1393Ser",
        "hgvsWellDefined": "XP_005248407.1:p.Pro1393Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248353.3:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248410.1:p.Pro317Ser",
        "hgvsWellDefined": "XP_005248410.1:p.Pro317Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4481,
          "referenceAllele": "C",
          "start": 4480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_006714489.2:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714552.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_006714552.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4434,
          "referenceAllele": "C",
          "start": 4433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514085.1:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512387.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512387.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4524,
          "referenceAllele": "C",
          "start": 4523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514086.1:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512388.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512388.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4481,
          "referenceAllele": "C",
          "start": 4480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514087.1:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512389.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512389.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4481,
          "referenceAllele": "C",
          "start": 4480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514088.1:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512390.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512390.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4481,
          "referenceAllele": "C",
          "start": 4480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514089.1:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512391.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512391.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4400,
          "referenceAllele": "C",
          "start": 4399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514090.1:c.3988C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512392.1:p.Pro1330Ser",
        "hgvsWellDefined": "XP_011512392.1:p.Pro1330Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3715,
          "referenceAllele": "C",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514091.1:c.3634C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512393.1:p.Pro1212Ser",
        "hgvsWellDefined": "XP_011512393.1:p.Pro1212Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4482,
          "referenceAllele": "C",
          "start": 4481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514092.1:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512394.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512394.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4487,
          "referenceAllele": "C",
          "start": 4486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514093.1:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512395.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512395.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1574,
          "referenceAllele": "C",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514094.1:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512396.1:p.Pro511Ser",
        "hgvsWellDefined": "XP_011512396.1:p.Pro511Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4481,
          "referenceAllele": "C",
          "start": 4480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_427661.2:n.4481C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4481,
          "referenceAllele": "C",
          "start": 4480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_925644.1:n.4481C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4608,
          "referenceAllele": "C",
          "start": 4607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248345.4:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248402.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_005248402.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4608,
          "referenceAllele": "C",
          "start": 4607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248346.4:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248403.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_005248403.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4608,
          "referenceAllele": "C",
          "start": 4607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248347.4:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248404.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_005248404.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4608,
          "referenceAllele": "C",
          "start": 4607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248349.4:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248406.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_005248406.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4479,
          "referenceAllele": "C",
          "start": 4478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_005248350.4:c.4177C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248407.1:p.Pro1393Ser",
        "hgvsWellDefined": "XP_005248407.1:p.Pro1393Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4657,
          "referenceAllele": "C",
          "start": 4656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514085.3:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512387.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512387.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4543,
          "referenceAllele": "C",
          "start": 4542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514086.3:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512388.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512388.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4530,
          "referenceAllele": "C",
          "start": 4529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514087.2:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512389.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512389.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4530,
          "referenceAllele": "C",
          "start": 4529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514088.2:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512390.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512390.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4530,
          "referenceAllele": "C",
          "start": 4529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514089.2:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512391.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512391.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4418,
          "referenceAllele": "C",
          "start": 4417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514090.3:c.3988C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512392.1:p.Pro1330Ser",
        "hgvsWellDefined": "XP_011512392.1:p.Pro1330Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4530,
          "referenceAllele": "C",
          "start": 4529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514092.2:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512394.1:p.Pro1436Ser",
        "hgvsWellDefined": "XP_011512394.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_011514094.2:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512396.1:p.Pro511Ser",
        "hgvsWellDefined": "XP_011512396.1:p.Pro511Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4256,
          "referenceAllele": "C",
          "start": 4255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009760.1:c.4117C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865249.1:p.Pro1373Ser",
        "hgvsWellDefined": "XP_016865249.1:p.Pro1373Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4283,
          "referenceAllele": "C",
          "start": 4282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009761.2:c.4117C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865250.1:p.Pro1373Ser",
        "hgvsWellDefined": "XP_016865250.1:p.Pro1373Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3856,
          "referenceAllele": "C",
          "start": 3855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009763.1:c.3313C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865252.1:p.Pro1105Ser",
        "hgvsWellDefined": "XP_016865252.1:p.Pro1105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4225,
          "referenceAllele": "C",
          "start": 4224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009765.1:c.3118C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865254.1:p.Pro1040Ser",
        "hgvsWellDefined": "XP_016865254.1:p.Pro1040Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1707,
          "referenceAllele": "C",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_017009766.1:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865255.1:p.Pro317Ser",
        "hgvsWellDefined": "XP_016865255.1:p.Pro317Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4521,
          "referenceAllele": "C",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446183.1:c.4117C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301951.1:p.Pro1373Ser",
        "hgvsWellDefined": "XP_024301951.1:p.Pro1373Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4461,
          "referenceAllele": "C",
          "start": 4460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446184.1:c.3988C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301952.1:p.Pro1330Ser",
        "hgvsWellDefined": "XP_024301952.1:p.Pro1330Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4354,
          "referenceAllele": "C",
          "start": 4353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446185.1:c.3634C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301953.1:p.Pro1212Ser",
        "hgvsWellDefined": "XP_024301953.1:p.Pro1212Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4504,
          "referenceAllele": "C",
          "start": 4503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XM_024446186.1:c.3313C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301954.1:p.Pro1105Ser",
        "hgvsWellDefined": "XP_024301954.1:p.Pro1105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4530,
          "referenceAllele": "C",
          "start": 4529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_001742208.1:n.4530C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4530,
          "referenceAllele": "C",
          "start": 4529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_002956171.1:n.4530C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4530,
          "referenceAllele": "C",
          "start": 4529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "XR_925644.2:n.4530C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828981631",
      "coordinates": [
        {
          "allele": "T",
          "end": 4485,
          "referenceAllele": "C",
          "start": 4484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NM_001384732.1:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371661.1:p.Pro1436Ser",
        "hgvsWellDefined": "NP_001371661.1:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651892.2:c.4306C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001384732.1:c.4306C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498265.2:p.Pro1436Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001371661.1:p.Pro1436Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645405919",
      "coordinates": [
        {
          "allele": "T",
          "end": 4485,
          "referenceAllele": "C",
          "start": 4484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NM_023073.4:c.4306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075561.3:p.Pro1436Ser",
        "hgvsWellDefined": "NP_075561.3:p.Pro1436Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728617"
    }
  ],
  "type": "nucleotide"
}