{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4927772",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=425784[alleleid]",
        "alleleId": 425784,
        "preferredName": "NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/432717",
        "RCV": [
          "RCV000712725",
          "RCV001080262",
          "RCV004023344"
        ],
        "variationId": 432717
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145006576-T-A",
        "id": "8-145006576-T-A",
        "variant": "8:145006576 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145006576T>A?assembly=hg19",
        "id": "chr8:g.145006576T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143932408T>A?assembly=hg38",
        "id": "chr8:g.143932408T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199843296",
        "rs": 199843296
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145006576-T-A?dataset=gnomad_r2_1",
        "id": "8-145006576-T-A",
        "variant": "8:145006576 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143932408-T-A?dataset=gnomad_r3",
        "id": "8-143932408-T-A",
        "variant": "8:143932408 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143932408-T-A?dataset=gnomad_r4",
        "id": "8-143932408-T-A",
        "variant": "8:143932408 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143932408,
          "referenceAllele": "T",
          "start": 143932407
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143932408T>A",
        "CM000670.2:g.143932408T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145006576,
          "referenceAllele": "T",
          "start": 145006575
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145006576T>A",
        "CM000670.1:g.145006576T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145078564,
          "referenceAllele": "T",
          "start": 145078563
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145078564T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49338,
          "referenceAllele": "A",
          "start": 49337
        }
      ],
      "hgvs": [
        "NG_012492.1:g.49338A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "A",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.2101A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Ser701Cys",
        "hgvsWellDefined": "ENSP00000437303.2:p.Ser701Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2062,
          "referenceAllele": "A",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.2020A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Ser674Cys",
        "hgvsWellDefined": "ENSP00000510528.1:p.Ser674Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "A",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.1687A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Ser563Cys",
        "hgvsWellDefined": "ENSP00000510788.1:p.Ser563Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.1900A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Ser634Cys",
        "hgvsWellDefined": "ENSP00000510329.1:p.Ser634Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "A",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.1969A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ser657Cys",
        "hgvsWellDefined": "ENSP00000344848.3:p.Ser657Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.1969A>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.1969A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ser657Cys"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ser657Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2088,
          "referenceAllele": "A",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.2050A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Ser684Cys",
        "hgvsWellDefined": "ENSP00000433982.2:p.Ser684Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2550,
          "referenceAllele": "A",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.2380A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Ser794Cys",
        "hgvsWellDefined": "ENSP00000323856.4:p.Ser794Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2098,
          "referenceAllele": "A",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.1969A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ser657Cys",
        "hgvsWellDefined": "ENSP00000344848.3:p.Ser657Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2037,
          "referenceAllele": "A",
          "start": 2036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.1969A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Ser657Cys",
        "hgvsWellDefined": "ENSP00000346602.3:p.Ser657Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2052,
          "referenceAllele": "A",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.1903A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Ser635Cys",
        "hgvsWellDefined": "ENSP00000347044.2:p.Ser635Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1984,
          "referenceAllele": "A",
          "start": 1983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.1927A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Ser643Cys",
        "hgvsWellDefined": "ENSP00000348702.3:p.Ser643Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.1927A>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.1927A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ser643Cys"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ser643Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1990,
          "referenceAllele": "A",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.1981A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Ser661Cys",
        "hgvsWellDefined": "ENSP00000350277.2:p.Ser661Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1947,
          "referenceAllele": "A",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.1873A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Ser625Cys",
        "hgvsWellDefined": "ENSP00000381756.2:p.Ser625Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2088,
          "referenceAllele": "A",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.2050A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Ser684Cys",
        "hgvsWellDefined": "ENSP00000388180.2:p.Ser684Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "A",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.2038A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Ser680Cys",
        "hgvsWellDefined": "ENSP00000434583.1:p.Ser680Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "A",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.5:c.2101A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.1:p.Ser701Cys",
        "hgvsWellDefined": "ENSP00000437303.1:p.Ser701Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825172885",
      "coordinates": [
        {
          "allele": "T",
          "end": 2099,
          "referenceAllele": "A",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.2050A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ser684Cys",
        "hgvsWellDefined": "NP_000436.2:p.Ser684Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830475763",
      "coordinates": [
        {
          "allele": "T",
          "end": 1984,
          "referenceAllele": "A",
          "start": 1983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.1927A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ser643Cys",
        "hgvsWellDefined": "NP_958780.1:p.Ser643Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830482891",
      "coordinates": [
        {
          "allele": "T",
          "end": 2052,
          "referenceAllele": "A",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.1903A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ser635Cys",
        "hgvsWellDefined": "NP_958781.1:p.Ser635Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458266",
      "coordinates": [
        {
          "allele": "T",
          "end": 2550,
          "referenceAllele": "A",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.2380A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ser794Cys",
        "hgvsWellDefined": "NP_958782.1:p.Ser794Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490323",
      "coordinates": [
        {
          "allele": "T",
          "end": 1947,
          "referenceAllele": "A",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.1873A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ser625Cys",
        "hgvsWellDefined": "NP_958783.1:p.Ser625Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494950",
      "coordinates": [
        {
          "allele": "T",
          "end": 2037,
          "referenceAllele": "A",
          "start": 2036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.1969A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ser657Cys",
        "hgvsWellDefined": "NP_958784.1:p.Ser657Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499579",
      "coordinates": [
        {
          "allele": "T",
          "end": 1990,
          "referenceAllele": "A",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.1981A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ser661Cys",
        "hgvsWellDefined": "NP_958785.1:p.Ser661Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504200",
      "coordinates": [
        {
          "allele": "T",
          "end": 2098,
          "referenceAllele": "A",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.1969A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ser657Cys",
        "hgvsWellDefined": "NP_958786.1:p.Ser657Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2498,
          "referenceAllele": "A",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.2395A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ser799Cys",
        "hgvsWellDefined": "XP_005251033.1:p.Ser799Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2098,
          "referenceAllele": "A",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.1996A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ser666Cys",
        "hgvsWellDefined": "XP_005251035.1:p.Ser666Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "referenceAllele": "A",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.1984A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ser662Cys",
        "hgvsWellDefined": "XP_005251036.1:p.Ser662Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "A",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.1984A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ser662Cys",
        "hgvsWellDefined": "XP_005251037.1:p.Ser662Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1984,
          "referenceAllele": "A",
          "start": 1983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.1942A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ser648Cys",
        "hgvsWellDefined": "XP_005251038.1:p.Ser648Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "A",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.1918A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ser640Cys",
        "hgvsWellDefined": "XP_005251039.1:p.Ser640Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1915,
          "referenceAllele": "A",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.1900A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Ser634Cys",
        "hgvsWellDefined": "XP_005251040.1:p.Ser634Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1974,
          "referenceAllele": "A",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.1888A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ser630Cys",
        "hgvsWellDefined": "XP_005251041.1:p.Ser630Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2161,
          "referenceAllele": "A",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.2065A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ser689Cys",
        "hgvsWellDefined": "XP_006716651.1:p.Ser689Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "referenceAllele": "A",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.1915A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Ser639Cys",
        "hgvsWellDefined": "XP_006716652.1:p.Ser639Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "referenceAllele": "A",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.1915A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ser639Cys",
        "hgvsWellDefined": "XP_006716653.1:p.Ser639Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2086,
          "referenceAllele": "A",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.1984A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ser662Cys",
        "hgvsWellDefined": "XP_011515432.1:p.Ser662Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1915,
          "referenceAllele": "A",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.1900A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ser634Cys",
        "hgvsWellDefined": "XP_011515433.1:p.Ser634Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2091,
          "referenceAllele": "A",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.1996A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ser666Cys",
        "hgvsWellDefined": "XP_011515434.1:p.Ser666Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2591,
          "referenceAllele": "A",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.2395A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ser799Cys",
        "hgvsWellDefined": "XP_005251033.1:p.Ser799Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2117,
          "referenceAllele": "A",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.1996A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ser666Cys",
        "hgvsWellDefined": "XP_005251035.1:p.Ser666Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2076,
          "referenceAllele": "A",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.1984A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ser662Cys",
        "hgvsWellDefined": "XP_005251036.1:p.Ser662Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2161,
          "referenceAllele": "A",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.1984A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ser662Cys",
        "hgvsWellDefined": "XP_005251037.1:p.Ser662Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1998,
          "referenceAllele": "A",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.1942A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ser648Cys",
        "hgvsWellDefined": "XP_005251038.1:p.Ser648Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1987,
          "referenceAllele": "A",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.1918A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ser640Cys",
        "hgvsWellDefined": "XP_005251039.1:p.Ser640Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3395,
          "referenceAllele": "A",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.1888A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ser630Cys",
        "hgvsWellDefined": "XP_005251041.1:p.Ser630Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2169,
          "referenceAllele": "A",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.2065A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ser689Cys",
        "hgvsWellDefined": "XP_006716651.1:p.Ser689Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2040,
          "referenceAllele": "A",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.1915A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ser639Cys",
        "hgvsWellDefined": "XP_006716653.1:p.Ser639Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "A",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.1984A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ser662Cys",
        "hgvsWellDefined": "XP_011515432.1:p.Ser662Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "A",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.1900A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ser634Cys",
        "hgvsWellDefined": "XP_011515433.1:p.Ser634Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2113,
          "referenceAllele": "A",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.1996A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ser666Cys",
        "hgvsWellDefined": "XP_011515434.1:p.Ser666Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825172885",
      "coordinates": [
        {
          "allele": "T",
          "end": 2099,
          "referenceAllele": "A",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.2050A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ser684Cys",
        "hgvsWellDefined": "NP_000436.2:p.Ser684Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830475763",
      "coordinates": [
        {
          "allele": "T",
          "end": 1984,
          "referenceAllele": "A",
          "start": 1983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.1927A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ser643Cys",
        "hgvsWellDefined": "NP_958780.1:p.Ser643Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.1927A>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.1927A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ser643Cys"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ser643Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830482891",
      "coordinates": [
        {
          "allele": "T",
          "end": 1966,
          "referenceAllele": "A",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.1903A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ser635Cys",
        "hgvsWellDefined": "NP_958781.1:p.Ser635Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458266",
      "coordinates": [
        {
          "allele": "T",
          "end": 2600,
          "referenceAllele": "A",
          "start": 2599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.2380A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ser794Cys",
        "hgvsWellDefined": "NP_958782.1:p.Ser794Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490323",
      "coordinates": [
        {
          "allele": "T",
          "end": 1980,
          "referenceAllele": "A",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.1873A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ser625Cys",
        "hgvsWellDefined": "NP_958783.1:p.Ser625Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494950",
      "coordinates": [
        {
          "allele": "T",
          "end": 2064,
          "referenceAllele": "A",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.1969A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ser657Cys",
        "hgvsWellDefined": "NP_958784.1:p.Ser657Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499579",
      "coordinates": [
        {
          "allele": "T",
          "end": 2090,
          "referenceAllele": "A",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.1981A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ser661Cys",
        "hgvsWellDefined": "NP_958785.1:p.Ser661Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504200",
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "A",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.1969A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ser657Cys",
        "hgvsWellDefined": "NP_958786.1:p.Ser657Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.1969A>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.1969A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ser657Cys"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ser657Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}