{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4924551",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2869471",
        "active": true,
        "id": "COSM2869471"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2869472",
        "active": true,
        "id": "COSM2869472"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2869473",
        "active": true,
        "id": "COSM2869473"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2869474",
        "active": true,
        "id": "COSM2869474"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3951406",
        "active": true,
        "id": "COSM3951406"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3951407",
        "active": true,
        "id": "COSM3951407"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=267271[alleleid]",
        "alleleId": 267271,
        "preferredName": "NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283034",
        "RCV": [
          "RCV000306155",
          "RCV000725197",
          "RCV001078899"
        ],
        "variationId": 283034
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144993261-G-A",
        "id": "8-144993261-G-A",
        "variant": "8:144993261 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144993261G>A?assembly=hg19",
        "id": "chr8:g.144993261G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143919093G>A?assembly=hg38",
        "id": "chr8:g.143919093G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372840016",
        "rs": 372840016
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144993261-G-A?dataset=gnomad_r2_1",
        "id": "8-144993261-G-A",
        "variant": "8:144993261 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919093-G-A?dataset=gnomad_r3",
        "id": "8-143919093-G-A",
        "variant": "8:143919093 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919093-G-A?dataset=gnomad_r4",
        "id": "8-143919093-G-A",
        "variant": "8:143919093 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143919093,
          "referenceAllele": "G",
          "start": 143919092
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143919093G>A",
        "CM000670.2:g.143919093G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144993261,
          "referenceAllele": "G",
          "start": 144993260
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144993261G>A",
        "CM000670.1:g.144993261G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145065249,
          "referenceAllele": "G",
          "start": 145065248
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145065249G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62653,
          "referenceAllele": "C",
          "start": 62652
        }
      ],
      "hgvs": [
        "NG_012492.1:g.62653C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10866,
          "referenceAllele": "C",
          "start": 10865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.10860C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Gly3620="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10821,
          "referenceAllele": "C",
          "start": 10820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.10779C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Gly3593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10779,
          "referenceAllele": "C",
          "start": 10778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.10446C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Gly3482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10672,
          "referenceAllele": "C",
          "start": 10671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.10659C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Gly3553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10864,
          "referenceAllele": "C",
          "start": 10863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.10728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Gly3576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.10728C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.10728C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Gly3576="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Gly3576="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7466,
          "referenceAllele": "C",
          "start": 7465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.7428C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Gly2476="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11309,
          "referenceAllele": "C",
          "start": 11308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.11139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Gly3713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10857,
          "referenceAllele": "C",
          "start": 10856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.10728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Gly3576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10796,
          "referenceAllele": "C",
          "start": 10795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.10728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Gly3576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10811,
          "referenceAllele": "C",
          "start": 10810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.10662C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Gly3554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10743,
          "referenceAllele": "C",
          "start": 10742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.10686C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Gly3562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.10686C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.10686C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Gly3562="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Gly3562="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10749,
          "referenceAllele": "C",
          "start": 10748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.10740C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Gly3580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10706,
          "referenceAllele": "C",
          "start": 10705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.10632C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Gly3544="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10847,
          "referenceAllele": "C",
          "start": 10846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.10809C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Gly3603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10797,
          "referenceAllele": "C",
          "start": 10796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.10797C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Gly3599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176051",
      "coordinates": [
        {
          "allele": "T",
          "end": 10858,
          "referenceAllele": "C",
          "start": 10857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.10809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Gly3603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480690",
      "coordinates": [
        {
          "allele": "T",
          "end": 10743,
          "referenceAllele": "C",
          "start": 10742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.10686C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Gly3562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487130",
      "coordinates": [
        {
          "allele": "T",
          "end": 10811,
          "referenceAllele": "C",
          "start": 10810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.10662C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Gly3554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489471",
      "coordinates": [
        {
          "allele": "T",
          "end": 11309,
          "referenceAllele": "C",
          "start": 11308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.11139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Gly3713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493520",
      "coordinates": [
        {
          "allele": "T",
          "end": 10706,
          "referenceAllele": "C",
          "start": 10705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.10632C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Gly3544="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498157",
      "coordinates": [
        {
          "allele": "T",
          "end": 10796,
          "referenceAllele": "C",
          "start": 10795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.10728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Gly3576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502768",
      "coordinates": [
        {
          "allele": "T",
          "end": 10749,
          "referenceAllele": "C",
          "start": 10748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.10740C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Gly3580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507402",
      "coordinates": [
        {
          "allele": "T",
          "end": 10857,
          "referenceAllele": "C",
          "start": 10856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.10728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Gly3576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11257,
          "referenceAllele": "C",
          "start": 11256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.11154C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Gly3718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10857,
          "referenceAllele": "C",
          "start": 10856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.10755C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Gly3585="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10800,
          "referenceAllele": "C",
          "start": 10799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.10743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Gly3581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10890,
          "referenceAllele": "C",
          "start": 10889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.10743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Gly3581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10743,
          "referenceAllele": "C",
          "start": 10742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.10701C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Gly3567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10742,
          "referenceAllele": "C",
          "start": 10741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.10677C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Gly3559="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10674,
          "referenceAllele": "C",
          "start": 10673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.10659C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Gly3553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10733,
          "referenceAllele": "C",
          "start": 10732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.10647C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Gly3549="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10920,
          "referenceAllele": "C",
          "start": 10919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.10824C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Gly3608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10689,
          "referenceAllele": "C",
          "start": 10688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.10674C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Gly3558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10689,
          "referenceAllele": "C",
          "start": 10688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.10674C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Gly3558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10845,
          "referenceAllele": "C",
          "start": 10844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.10743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Gly3581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10674,
          "referenceAllele": "C",
          "start": 10673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.10659C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Gly3553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7469,
          "referenceAllele": "C",
          "start": 7468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.7374C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Gly2458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11350,
          "referenceAllele": "C",
          "start": 11349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.11154C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Gly3718="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10876,
          "referenceAllele": "C",
          "start": 10875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.10755C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Gly3585="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10835,
          "referenceAllele": "C",
          "start": 10834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.10743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Gly3581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10920,
          "referenceAllele": "C",
          "start": 10919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.10743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Gly3581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10757,
          "referenceAllele": "C",
          "start": 10756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.10701C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Gly3567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10746,
          "referenceAllele": "C",
          "start": 10745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.10677C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Gly3559="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12154,
          "referenceAllele": "C",
          "start": 12153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.10647C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Gly3549="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10928,
          "referenceAllele": "C",
          "start": 10927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.10824C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Gly3608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10799,
          "referenceAllele": "C",
          "start": 10798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.10674C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Gly3558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10864,
          "referenceAllele": "C",
          "start": 10863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.10743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Gly3581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10783,
          "referenceAllele": "C",
          "start": 10782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.10659C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Gly3553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7491,
          "referenceAllele": "C",
          "start": 7490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.7374C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Gly2458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176051",
      "coordinates": [
        {
          "allele": "T",
          "end": 10858,
          "referenceAllele": "C",
          "start": 10857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.10809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Gly3603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480690",
      "coordinates": [
        {
          "allele": "T",
          "end": 10743,
          "referenceAllele": "C",
          "start": 10742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.10686C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Gly3562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.10686C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.10686C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Gly3562="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Gly3562="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487130",
      "coordinates": [
        {
          "allele": "T",
          "end": 10725,
          "referenceAllele": "C",
          "start": 10724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.10662C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Gly3554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489471",
      "coordinates": [
        {
          "allele": "T",
          "end": 11359,
          "referenceAllele": "C",
          "start": 11358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.11139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Gly3713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493520",
      "coordinates": [
        {
          "allele": "T",
          "end": 10739,
          "referenceAllele": "C",
          "start": 10738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.10632C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Gly3544="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498157",
      "coordinates": [
        {
          "allele": "T",
          "end": 10823,
          "referenceAllele": "C",
          "start": 10822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.10728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Gly3576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502768",
      "coordinates": [
        {
          "allele": "T",
          "end": 10849,
          "referenceAllele": "C",
          "start": 10848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.10740C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Gly3580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507402",
      "coordinates": [
        {
          "allele": "T",
          "end": 10864,
          "referenceAllele": "C",
          "start": 10863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.10728C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Gly3576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.10728C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.10728C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Gly3576="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Gly3576="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}