{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4924655",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.10431C>T (p.Pro3477=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3646316",
        "active": true,
        "id": "COSM3646316"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3646317",
        "active": true,
        "id": "COSM3646317"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3646318",
        "active": true,
        "id": "COSM3646318"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3646319",
        "active": true,
        "id": "COSM3646319"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3646320",
        "active": true,
        "id": "COSM3646320"
      },
      {
        "active": false,
        "id": "COSM4891755"
      },
      {
        "active": false,
        "id": "COSM4891756"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=458277[alleleid]",
        "alleleId": 458277,
        "preferredName": "NM_201384.3(PLEC):c.10431C>T (p.Pro3477=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/478530",
        "RCV": [
          "RCV000594550",
          "RCV001078594"
        ],
        "variationId": 478530
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144993558-G-A",
        "id": "8-144993558-G-A",
        "variant": "8:144993558 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144993558G>A?assembly=hg19",
        "id": "chr8:g.144993558G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143919390G>A?assembly=hg38",
        "id": "chr8:g.143919390G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200509064",
        "rs": 200509064
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144993558-G-A?dataset=gnomad_r2_1",
        "id": "8-144993558-G-A",
        "variant": "8:144993558 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919390-G-A?dataset=gnomad_r3",
        "id": "8-143919390-G-A",
        "variant": "8:143919390 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919390-G-A?dataset=gnomad_r4",
        "id": "8-143919390-G-A",
        "variant": "8:143919390 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143919390,
          "referenceAllele": "G",
          "start": 143919389
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143919390G>A",
        "CM000670.2:g.143919390G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144993558,
          "referenceAllele": "G",
          "start": 144993557
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144993558G>A",
        "CM000670.1:g.144993558G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145065546,
          "referenceAllele": "G",
          "start": 145065545
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145065546G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62356,
          "referenceAllele": "C",
          "start": 62355
        }
      ],
      "hgvs": [
        "NG_012492.1:g.62356C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10569,
          "referenceAllele": "C",
          "start": 10568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.10563C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Pro3521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10524,
          "referenceAllele": "C",
          "start": 10523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.10482C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Pro3494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10482,
          "referenceAllele": "C",
          "start": 10481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.10149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Pro3383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10375,
          "referenceAllele": "C",
          "start": 10374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.10362C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Pro3454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10567,
          "referenceAllele": "C",
          "start": 10566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.10431C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro3477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.10431C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.10431C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro3477="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro3477="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7169,
          "referenceAllele": "C",
          "start": 7168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.7131C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Pro2377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11012,
          "referenceAllele": "C",
          "start": 11011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.10842C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Pro3614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10560,
          "referenceAllele": "C",
          "start": 10559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.10431C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro3477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10499,
          "referenceAllele": "C",
          "start": 10498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.10431C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Pro3477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10514,
          "referenceAllele": "C",
          "start": 10513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.10365C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Pro3455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10446,
          "referenceAllele": "C",
          "start": 10445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.10389C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Pro3463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.10389C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.10389C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro3463="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro3463="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10452,
          "referenceAllele": "C",
          "start": 10451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.10443C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Pro3481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10409,
          "referenceAllele": "C",
          "start": 10408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.10335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Pro3445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10550,
          "referenceAllele": "C",
          "start": 10549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.10512C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Pro3504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10500,
          "referenceAllele": "C",
          "start": 10499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.10500C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Pro3500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175937",
      "coordinates": [
        {
          "allele": "T",
          "end": 10561,
          "referenceAllele": "C",
          "start": 10560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.10512C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro3504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480534",
      "coordinates": [
        {
          "allele": "T",
          "end": 10446,
          "referenceAllele": "C",
          "start": 10445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.10389C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro3463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487017",
      "coordinates": [
        {
          "allele": "T",
          "end": 10514,
          "referenceAllele": "C",
          "start": 10513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.10365C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro3455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489431",
      "coordinates": [
        {
          "allele": "T",
          "end": 11012,
          "referenceAllele": "C",
          "start": 11011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.10842C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro3614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493407",
      "coordinates": [
        {
          "allele": "T",
          "end": 10409,
          "referenceAllele": "C",
          "start": 10408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.10335C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro3445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498043",
      "coordinates": [
        {
          "allele": "T",
          "end": 10499,
          "referenceAllele": "C",
          "start": 10498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.10431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro3477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502654",
      "coordinates": [
        {
          "allele": "T",
          "end": 10452,
          "referenceAllele": "C",
          "start": 10451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.10443C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro3481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507288",
      "coordinates": [
        {
          "allele": "T",
          "end": 10560,
          "referenceAllele": "C",
          "start": 10559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.10431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro3477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10960,
          "referenceAllele": "C",
          "start": 10959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.10857C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro3619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10560,
          "referenceAllele": "C",
          "start": 10559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.10458C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro3486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10503,
          "referenceAllele": "C",
          "start": 10502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.10446C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro3482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10593,
          "referenceAllele": "C",
          "start": 10592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.10446C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro3482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10446,
          "referenceAllele": "C",
          "start": 10445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.10404C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro3468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10445,
          "referenceAllele": "C",
          "start": 10444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.10380C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro3460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10377,
          "referenceAllele": "C",
          "start": 10376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.10362C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Pro3454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10436,
          "referenceAllele": "C",
          "start": 10435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.10350C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro3450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10623,
          "referenceAllele": "C",
          "start": 10622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.10527C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro3509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10392,
          "referenceAllele": "C",
          "start": 10391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.10377C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Pro3459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10392,
          "referenceAllele": "C",
          "start": 10391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.10377C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro3459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10548,
          "referenceAllele": "C",
          "start": 10547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.10446C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro3482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10377,
          "referenceAllele": "C",
          "start": 10376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.10362C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro3454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7172,
          "referenceAllele": "C",
          "start": 7171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.7077C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro2359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11053,
          "referenceAllele": "C",
          "start": 11052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.10857C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro3619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10579,
          "referenceAllele": "C",
          "start": 10578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.10458C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro3486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10538,
          "referenceAllele": "C",
          "start": 10537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.10446C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro3482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10623,
          "referenceAllele": "C",
          "start": 10622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.10446C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro3482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10460,
          "referenceAllele": "C",
          "start": 10459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.10404C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro3468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10449,
          "referenceAllele": "C",
          "start": 10448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.10380C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro3460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11857,
          "referenceAllele": "C",
          "start": 11856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.10350C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro3450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10631,
          "referenceAllele": "C",
          "start": 10630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.10527C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro3509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10502,
          "referenceAllele": "C",
          "start": 10501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.10377C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro3459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10567,
          "referenceAllele": "C",
          "start": 10566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.10446C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro3482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10486,
          "referenceAllele": "C",
          "start": 10485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.10362C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro3454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7194,
          "referenceAllele": "C",
          "start": 7193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.7077C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro2359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175937",
      "coordinates": [
        {
          "allele": "T",
          "end": 10561,
          "referenceAllele": "C",
          "start": 10560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.10512C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro3504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480534",
      "coordinates": [
        {
          "allele": "T",
          "end": 10446,
          "referenceAllele": "C",
          "start": 10445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.10389C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro3463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.10389C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.10389C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro3463="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro3463="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487017",
      "coordinates": [
        {
          "allele": "T",
          "end": 10428,
          "referenceAllele": "C",
          "start": 10427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.10365C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro3455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489431",
      "coordinates": [
        {
          "allele": "T",
          "end": 11062,
          "referenceAllele": "C",
          "start": 11061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.10842C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro3614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493407",
      "coordinates": [
        {
          "allele": "T",
          "end": 10442,
          "referenceAllele": "C",
          "start": 10441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.10335C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro3445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498043",
      "coordinates": [
        {
          "allele": "T",
          "end": 10526,
          "referenceAllele": "C",
          "start": 10525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.10431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro3477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502654",
      "coordinates": [
        {
          "allele": "T",
          "end": 10552,
          "referenceAllele": "C",
          "start": 10551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.10443C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro3481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507288",
      "coordinates": [
        {
          "allele": "T",
          "end": 10567,
          "referenceAllele": "C",
          "start": 10566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.10431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro3477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.10431C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.10431C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro3477="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro3477="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}