{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4923903",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.13097C>T (p.Thr4366Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=457248[alleleid]",
        "alleleId": 457248,
        "preferredName": "NM_201384.3(PLEC):c.13097C>T (p.Thr4366Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471539",
        "RCV": [
          "RCV001080164",
          "RCV000734209",
          "RCV002530076"
        ],
        "variationId": 471539
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144990892-G-A",
        "id": "8-144990892-G-A",
        "variant": "8:144990892 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144990892G>A?assembly=hg19",
        "id": "chr8:g.144990892G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143916724G>A?assembly=hg38",
        "id": "chr8:g.143916724G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200807583",
        "rs": 200807583
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144990892-G-A?dataset=gnomad_r2_1",
        "id": "8-144990892-G-A",
        "variant": "8:144990892 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143916724-G-A?dataset=gnomad_r3",
        "id": "8-143916724-G-A",
        "variant": "8:143916724 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143916724-G-A?dataset=gnomad_r4",
        "id": "8-143916724-G-A",
        "variant": "8:143916724 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143916724,
          "referenceAllele": "G",
          "start": 143916723
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143916724G>A",
        "CM000670.2:g.143916724G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144990892,
          "referenceAllele": "G",
          "start": 144990891
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144990892G>A",
        "CM000670.1:g.144990892G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145062880,
          "referenceAllele": "G",
          "start": 145062879
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145062880G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65022,
          "referenceAllele": "C",
          "start": 65021
        }
      ],
      "hgvs": [
        "NG_012492.1:g.65022C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13235,
          "referenceAllele": "C",
          "start": 13234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.13229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Thr4410Ile",
        "hgvsWellDefined": "ENSP00000437303.2:p.Thr4410Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13190,
          "referenceAllele": "C",
          "start": 13189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.13148C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Thr4383Ile",
        "hgvsWellDefined": "ENSP00000510528.1:p.Thr4383Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13148,
          "referenceAllele": "C",
          "start": 13147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.12815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Thr4272Ile",
        "hgvsWellDefined": "ENSP00000510788.1:p.Thr4272Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13041,
          "referenceAllele": "C",
          "start": 13040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.13028C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Thr4343Ile",
        "hgvsWellDefined": "ENSP00000510329.1:p.Thr4343Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13233,
          "referenceAllele": "C",
          "start": 13232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.13097C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr4366Ile",
        "hgvsWellDefined": "ENSP00000344848.3:p.Thr4366Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.13097C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.13097C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr4366Ile"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr4366Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9835,
          "referenceAllele": "C",
          "start": 9834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.9797C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Thr3266Ile",
        "hgvsWellDefined": "ENSP00000433982.2:p.Thr3266Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13678,
          "referenceAllele": "C",
          "start": 13677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.13508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Thr4503Ile",
        "hgvsWellDefined": "ENSP00000323856.4:p.Thr4503Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13226,
          "referenceAllele": "C",
          "start": 13225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.13097C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr4366Ile",
        "hgvsWellDefined": "ENSP00000344848.3:p.Thr4366Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13165,
          "referenceAllele": "C",
          "start": 13164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.13097C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Thr4366Ile",
        "hgvsWellDefined": "ENSP00000346602.3:p.Thr4366Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13180,
          "referenceAllele": "C",
          "start": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.13031C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Thr4344Ile",
        "hgvsWellDefined": "ENSP00000347044.2:p.Thr4344Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13112,
          "referenceAllele": "C",
          "start": 13111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.13055C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Thr4352Ile",
        "hgvsWellDefined": "ENSP00000348702.3:p.Thr4352Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.13055C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.13055C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr4352Ile"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr4352Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13118,
          "referenceAllele": "C",
          "start": 13117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.13109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Thr4370Ile",
        "hgvsWellDefined": "ENSP00000350277.2:p.Thr4370Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13075,
          "referenceAllele": "C",
          "start": 13074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.13001C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Thr4334Ile",
        "hgvsWellDefined": "ENSP00000381756.2:p.Thr4334Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13216,
          "referenceAllele": "C",
          "start": 13215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.13178C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Thr4393Ile",
        "hgvsWellDefined": "ENSP00000388180.2:p.Thr4393Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13166,
          "referenceAllele": "C",
          "start": 13165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.13166C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Thr4389Ile",
        "hgvsWellDefined": "ENSP00000434583.1:p.Thr4389Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176766",
      "coordinates": [
        {
          "allele": "T",
          "end": 13227,
          "referenceAllele": "C",
          "start": 13226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.13178C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr4393Ile",
        "hgvsWellDefined": "NP_000436.2:p.Thr4393Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481799",
      "coordinates": [
        {
          "allele": "T",
          "end": 13112,
          "referenceAllele": "C",
          "start": 13111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.13055C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr4352Ile",
        "hgvsWellDefined": "NP_958780.1:p.Thr4352Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487845",
      "coordinates": [
        {
          "allele": "T",
          "end": 13180,
          "referenceAllele": "C",
          "start": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.13031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr4344Ile",
        "hgvsWellDefined": "NP_958781.1:p.Thr4344Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669891",
      "coordinates": [
        {
          "allele": "T",
          "end": 13678,
          "referenceAllele": "C",
          "start": 13677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.13508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr4503Ile",
        "hgvsWellDefined": "NP_958782.1:p.Thr4503Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494235",
      "coordinates": [
        {
          "allele": "T",
          "end": 13075,
          "referenceAllele": "C",
          "start": 13074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.13001C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr4334Ile",
        "hgvsWellDefined": "NP_958783.1:p.Thr4334Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498872",
      "coordinates": [
        {
          "allele": "T",
          "end": 13165,
          "referenceAllele": "C",
          "start": 13164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.13097C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr4366Ile",
        "hgvsWellDefined": "NP_958784.1:p.Thr4366Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503483",
      "coordinates": [
        {
          "allele": "T",
          "end": 13118,
          "referenceAllele": "C",
          "start": 13117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.13109C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr4370Ile",
        "hgvsWellDefined": "NP_958785.1:p.Thr4370Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508116",
      "coordinates": [
        {
          "allele": "T",
          "end": 13226,
          "referenceAllele": "C",
          "start": 13225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.13097C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr4366Ile",
        "hgvsWellDefined": "NP_958786.1:p.Thr4366Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13626,
          "referenceAllele": "C",
          "start": 13625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.13523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr4508Ile",
        "hgvsWellDefined": "XP_005251033.1:p.Thr4508Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13226,
          "referenceAllele": "C",
          "start": 13225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.13124C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr4375Ile",
        "hgvsWellDefined": "XP_005251035.1:p.Thr4375Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13169,
          "referenceAllele": "C",
          "start": 13168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.13112C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr4371Ile",
        "hgvsWellDefined": "XP_005251036.1:p.Thr4371Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13259,
          "referenceAllele": "C",
          "start": 13258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.13112C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr4371Ile",
        "hgvsWellDefined": "XP_005251037.1:p.Thr4371Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13112,
          "referenceAllele": "C",
          "start": 13111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.13070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr4357Ile",
        "hgvsWellDefined": "XP_005251038.1:p.Thr4357Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13111,
          "referenceAllele": "C",
          "start": 13110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.13046C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr4349Ile",
        "hgvsWellDefined": "XP_005251039.1:p.Thr4349Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13043,
          "referenceAllele": "C",
          "start": 13042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.13028C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Thr4343Ile",
        "hgvsWellDefined": "XP_005251040.1:p.Thr4343Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13102,
          "referenceAllele": "C",
          "start": 13101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.13016C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr4339Ile",
        "hgvsWellDefined": "XP_005251041.1:p.Thr4339Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13289,
          "referenceAllele": "C",
          "start": 13288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.13193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr4398Ile",
        "hgvsWellDefined": "XP_006716651.1:p.Thr4398Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13058,
          "referenceAllele": "C",
          "start": 13057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.13043C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Thr4348Ile",
        "hgvsWellDefined": "XP_006716652.1:p.Thr4348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13058,
          "referenceAllele": "C",
          "start": 13057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.13043C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr4348Ile",
        "hgvsWellDefined": "XP_006716653.1:p.Thr4348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13214,
          "referenceAllele": "C",
          "start": 13213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.13112C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr4371Ile",
        "hgvsWellDefined": "XP_011515432.1:p.Thr4371Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13043,
          "referenceAllele": "C",
          "start": 13042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.13028C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr4343Ile",
        "hgvsWellDefined": "XP_011515433.1:p.Thr4343Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9838,
          "referenceAllele": "C",
          "start": 9837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.9743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr3248Ile",
        "hgvsWellDefined": "XP_011515434.1:p.Thr3248Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13719,
          "referenceAllele": "C",
          "start": 13718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.13523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr4508Ile",
        "hgvsWellDefined": "XP_005251033.1:p.Thr4508Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13245,
          "referenceAllele": "C",
          "start": 13244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.13124C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr4375Ile",
        "hgvsWellDefined": "XP_005251035.1:p.Thr4375Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13204,
          "referenceAllele": "C",
          "start": 13203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.13112C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr4371Ile",
        "hgvsWellDefined": "XP_005251036.1:p.Thr4371Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13289,
          "referenceAllele": "C",
          "start": 13288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.13112C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr4371Ile",
        "hgvsWellDefined": "XP_005251037.1:p.Thr4371Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13126,
          "referenceAllele": "C",
          "start": 13125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.13070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr4357Ile",
        "hgvsWellDefined": "XP_005251038.1:p.Thr4357Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13115,
          "referenceAllele": "C",
          "start": 13114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.13046C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr4349Ile",
        "hgvsWellDefined": "XP_005251039.1:p.Thr4349Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14523,
          "referenceAllele": "C",
          "start": 14522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.13016C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr4339Ile",
        "hgvsWellDefined": "XP_005251041.1:p.Thr4339Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13297,
          "referenceAllele": "C",
          "start": 13296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.13193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr4398Ile",
        "hgvsWellDefined": "XP_006716651.1:p.Thr4398Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13168,
          "referenceAllele": "C",
          "start": 13167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.13043C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr4348Ile",
        "hgvsWellDefined": "XP_006716653.1:p.Thr4348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13233,
          "referenceAllele": "C",
          "start": 13232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.13112C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr4371Ile",
        "hgvsWellDefined": "XP_011515432.1:p.Thr4371Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13152,
          "referenceAllele": "C",
          "start": 13151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.13028C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr4343Ile",
        "hgvsWellDefined": "XP_011515433.1:p.Thr4343Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9860,
          "referenceAllele": "C",
          "start": 9859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.9743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr3248Ile",
        "hgvsWellDefined": "XP_011515434.1:p.Thr3248Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176766",
      "coordinates": [
        {
          "allele": "T",
          "end": 13227,
          "referenceAllele": "C",
          "start": 13226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.13178C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr4393Ile",
        "hgvsWellDefined": "NP_000436.2:p.Thr4393Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481799",
      "coordinates": [
        {
          "allele": "T",
          "end": 13112,
          "referenceAllele": "C",
          "start": 13111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.13055C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr4352Ile",
        "hgvsWellDefined": "NP_958780.1:p.Thr4352Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.13055C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.13055C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr4352Ile"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr4352Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487845",
      "coordinates": [
        {
          "allele": "T",
          "end": 13094,
          "referenceAllele": "C",
          "start": 13093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.13031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr4344Ile",
        "hgvsWellDefined": "NP_958781.1:p.Thr4344Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669891",
      "coordinates": [
        {
          "allele": "T",
          "end": 13728,
          "referenceAllele": "C",
          "start": 13727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.13508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr4503Ile",
        "hgvsWellDefined": "NP_958782.1:p.Thr4503Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494235",
      "coordinates": [
        {
          "allele": "T",
          "end": 13108,
          "referenceAllele": "C",
          "start": 13107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.13001C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr4334Ile",
        "hgvsWellDefined": "NP_958783.1:p.Thr4334Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498872",
      "coordinates": [
        {
          "allele": "T",
          "end": 13192,
          "referenceAllele": "C",
          "start": 13191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.13097C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr4366Ile",
        "hgvsWellDefined": "NP_958784.1:p.Thr4366Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503483",
      "coordinates": [
        {
          "allele": "T",
          "end": 13218,
          "referenceAllele": "C",
          "start": 13217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.13109C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr4370Ile",
        "hgvsWellDefined": "NP_958785.1:p.Thr4370Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508116",
      "coordinates": [
        {
          "allele": "T",
          "end": 13233,
          "referenceAllele": "C",
          "start": 13232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.13097C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr4366Ile",
        "hgvsWellDefined": "NP_958786.1:p.Thr4366Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.13097C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.13097C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr4366Ile"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr4366Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}