{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4927429",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.2642C>T (p.Thr881Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=371661[alleleid]",
        "alleleId": 371661,
        "preferredName": "NM_201384.3(PLEC):c.2642C>T (p.Thr881Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/386366",
        "RCV": [
          "RCV000435316",
          "RCV000795472",
          "RCV000725844",
          "RCV002521792",
          "RCV004533062"
        ],
        "variationId": 386366
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145004201-G-A",
        "id": "8-145004201-G-A",
        "variant": "8:145004201 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145004201G>A?assembly=hg19",
        "id": "chr8:g.145004201G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143930033G>A?assembly=hg38",
        "id": "chr8:g.143930033G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200611519",
        "rs": 200611519
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145004201-G-A?dataset=gnomad_r2_1",
        "id": "8-145004201-G-A",
        "variant": "8:145004201 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143930033-G-A?dataset=gnomad_r3",
        "id": "8-143930033-G-A",
        "variant": "8:143930033 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143930033-G-A?dataset=gnomad_r4",
        "id": "8-143930033-G-A",
        "variant": "8:143930033 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143930033,
          "referenceAllele": "G",
          "start": 143930032
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143930033G>A",
        "CM000670.2:g.143930033G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145004201,
          "referenceAllele": "G",
          "start": 145004200
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145004201G>A",
        "CM000670.1:g.145004201G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145076189,
          "referenceAllele": "G",
          "start": 145076188
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145076189G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51713,
          "referenceAllele": "C",
          "start": 51712
        }
      ],
      "hgvs": [
        "NG_012492.1:g.51713C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2780,
          "referenceAllele": "C",
          "start": 2779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.2774C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Thr925Met",
        "hgvsWellDefined": "ENSP00000437303.2:p.Thr925Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2735,
          "referenceAllele": "C",
          "start": 2734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.2693C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Thr898Met",
        "hgvsWellDefined": "ENSP00000510528.1:p.Thr898Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2693,
          "referenceAllele": "C",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.2360C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Thr787Met",
        "hgvsWellDefined": "ENSP00000510788.1:p.Thr787Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2586,
          "referenceAllele": "C",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.2573C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Thr858Met",
        "hgvsWellDefined": "ENSP00000510329.1:p.Thr858Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2778,
          "referenceAllele": "C",
          "start": 2777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.2642C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr881Met",
        "hgvsWellDefined": "ENSP00000344848.3:p.Thr881Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2642C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2642C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr881Met"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr881Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2761,
          "referenceAllele": "C",
          "start": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.2723C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Thr908Met",
        "hgvsWellDefined": "ENSP00000433982.2:p.Thr908Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3223,
          "referenceAllele": "C",
          "start": 3222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.3053C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Thr1018Met",
        "hgvsWellDefined": "ENSP00000323856.4:p.Thr1018Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.2642C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr881Met",
        "hgvsWellDefined": "ENSP00000344848.3:p.Thr881Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2710,
          "referenceAllele": "C",
          "start": 2709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.2642C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Thr881Met",
        "hgvsWellDefined": "ENSP00000346602.3:p.Thr881Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2725,
          "referenceAllele": "C",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.2576C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Thr859Met",
        "hgvsWellDefined": "ENSP00000347044.2:p.Thr859Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2657,
          "referenceAllele": "C",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.2600C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Thr867Met",
        "hgvsWellDefined": "ENSP00000348702.3:p.Thr867Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2600C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2600C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr867Met"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr867Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2663,
          "referenceAllele": "C",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.2654C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Thr885Met",
        "hgvsWellDefined": "ENSP00000350277.2:p.Thr885Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2620,
          "referenceAllele": "C",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.2546C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Thr849Met",
        "hgvsWellDefined": "ENSP00000381756.2:p.Thr849Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2761,
          "referenceAllele": "C",
          "start": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.2723C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Thr908Met",
        "hgvsWellDefined": "ENSP00000388180.2:p.Thr908Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2711,
          "referenceAllele": "C",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.2711C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Thr904Met",
        "hgvsWellDefined": "ENSP00000434583.1:p.Thr904Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458214",
      "coordinates": [
        {
          "allele": "T",
          "end": 2772,
          "referenceAllele": "C",
          "start": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.2723C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr908Met",
        "hgvsWellDefined": "NP_000436.2:p.Thr908Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476089",
      "coordinates": [
        {
          "allele": "T",
          "end": 2657,
          "referenceAllele": "C",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.2600C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr867Met",
        "hgvsWellDefined": "NP_958780.1:p.Thr867Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483166",
      "coordinates": [
        {
          "allele": "T",
          "end": 2725,
          "referenceAllele": "C",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.2576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr859Met",
        "hgvsWellDefined": "NP_958781.1:p.Thr859Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488359",
      "coordinates": [
        {
          "allele": "T",
          "end": 3223,
          "referenceAllele": "C",
          "start": 3222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.3053C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr1018Met",
        "hgvsWellDefined": "NP_958782.1:p.Thr1018Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490514",
      "coordinates": [
        {
          "allele": "T",
          "end": 2620,
          "referenceAllele": "C",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.2546C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr849Met",
        "hgvsWellDefined": "NP_958783.1:p.Thr849Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495143",
      "coordinates": [
        {
          "allele": "T",
          "end": 2710,
          "referenceAllele": "C",
          "start": 2709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.2642C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr881Met",
        "hgvsWellDefined": "NP_958784.1:p.Thr881Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499770",
      "coordinates": [
        {
          "allele": "T",
          "end": 2663,
          "referenceAllele": "C",
          "start": 2662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.2654C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr885Met",
        "hgvsWellDefined": "NP_958785.1:p.Thr885Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504392",
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.2642C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr881Met",
        "hgvsWellDefined": "NP_958786.1:p.Thr881Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3171,
          "referenceAllele": "C",
          "start": 3170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.3068C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr1023Met",
        "hgvsWellDefined": "XP_005251033.1:p.Thr1023Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2771,
          "referenceAllele": "C",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.2669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr890Met",
        "hgvsWellDefined": "XP_005251035.1:p.Thr890Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "referenceAllele": "C",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.2657C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr886Met",
        "hgvsWellDefined": "XP_005251036.1:p.Thr886Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2804,
          "referenceAllele": "C",
          "start": 2803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.2657C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr886Met",
        "hgvsWellDefined": "XP_005251037.1:p.Thr886Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2657,
          "referenceAllele": "C",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.2615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr872Met",
        "hgvsWellDefined": "XP_005251038.1:p.Thr872Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2656,
          "referenceAllele": "C",
          "start": 2655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.2591C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr864Met",
        "hgvsWellDefined": "XP_005251039.1:p.Thr864Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2588,
          "referenceAllele": "C",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.2573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Thr858Met",
        "hgvsWellDefined": "XP_005251040.1:p.Thr858Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2647,
          "referenceAllele": "C",
          "start": 2646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.2561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr854Met",
        "hgvsWellDefined": "XP_005251041.1:p.Thr854Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.2738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr913Met",
        "hgvsWellDefined": "XP_006716651.1:p.Thr913Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2603,
          "referenceAllele": "C",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.2588C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Thr863Met",
        "hgvsWellDefined": "XP_006716652.1:p.Thr863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2603,
          "referenceAllele": "C",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.2588C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr863Met",
        "hgvsWellDefined": "XP_006716653.1:p.Thr863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2759,
          "referenceAllele": "C",
          "start": 2758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.2657C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr886Met",
        "hgvsWellDefined": "XP_011515432.1:p.Thr886Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2588,
          "referenceAllele": "C",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.2573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr858Met",
        "hgvsWellDefined": "XP_011515433.1:p.Thr858Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2764,
          "referenceAllele": "C",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.2669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr890Met",
        "hgvsWellDefined": "XP_011515434.1:p.Thr890Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3264,
          "referenceAllele": "C",
          "start": 3263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.3068C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr1023Met",
        "hgvsWellDefined": "XP_005251033.1:p.Thr1023Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2790,
          "referenceAllele": "C",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.2669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr890Met",
        "hgvsWellDefined": "XP_005251035.1:p.Thr890Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2749,
          "referenceAllele": "C",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.2657C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr886Met",
        "hgvsWellDefined": "XP_005251036.1:p.Thr886Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.2657C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr886Met",
        "hgvsWellDefined": "XP_005251037.1:p.Thr886Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "C",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.2615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr872Met",
        "hgvsWellDefined": "XP_005251038.1:p.Thr872Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2660,
          "referenceAllele": "C",
          "start": 2659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.2591C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr864Met",
        "hgvsWellDefined": "XP_005251039.1:p.Thr864Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4068,
          "referenceAllele": "C",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.2561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr854Met",
        "hgvsWellDefined": "XP_005251041.1:p.Thr854Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "C",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.2738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr913Met",
        "hgvsWellDefined": "XP_006716651.1:p.Thr913Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "referenceAllele": "C",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.2588C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr863Met",
        "hgvsWellDefined": "XP_006716653.1:p.Thr863Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2778,
          "referenceAllele": "C",
          "start": 2777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.2657C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr886Met",
        "hgvsWellDefined": "XP_011515432.1:p.Thr886Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2697,
          "referenceAllele": "C",
          "start": 2696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.2573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr858Met",
        "hgvsWellDefined": "XP_011515433.1:p.Thr858Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2786,
          "referenceAllele": "C",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.2669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr890Met",
        "hgvsWellDefined": "XP_011515434.1:p.Thr890Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458214",
      "coordinates": [
        {
          "allele": "T",
          "end": 2772,
          "referenceAllele": "C",
          "start": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.2723C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr908Met",
        "hgvsWellDefined": "NP_000436.2:p.Thr908Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476089",
      "coordinates": [
        {
          "allele": "T",
          "end": 2657,
          "referenceAllele": "C",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.2600C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr867Met",
        "hgvsWellDefined": "NP_958780.1:p.Thr867Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2600C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2600C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr867Met"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr867Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483166",
      "coordinates": [
        {
          "allele": "T",
          "end": 2639,
          "referenceAllele": "C",
          "start": 2638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.2576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr859Met",
        "hgvsWellDefined": "NP_958781.1:p.Thr859Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488359",
      "coordinates": [
        {
          "allele": "T",
          "end": 3273,
          "referenceAllele": "C",
          "start": 3272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.3053C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr1018Met",
        "hgvsWellDefined": "NP_958782.1:p.Thr1018Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490514",
      "coordinates": [
        {
          "allele": "T",
          "end": 2653,
          "referenceAllele": "C",
          "start": 2652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.2546C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr849Met",
        "hgvsWellDefined": "NP_958783.1:p.Thr849Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495143",
      "coordinates": [
        {
          "allele": "T",
          "end": 2737,
          "referenceAllele": "C",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.2642C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr881Met",
        "hgvsWellDefined": "NP_958784.1:p.Thr881Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499770",
      "coordinates": [
        {
          "allele": "T",
          "end": 2763,
          "referenceAllele": "C",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.2654C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr885Met",
        "hgvsWellDefined": "NP_958785.1:p.Thr885Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504392",
      "coordinates": [
        {
          "allele": "T",
          "end": 2778,
          "referenceAllele": "C",
          "start": 2777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.2642C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr881Met",
        "hgvsWellDefined": "NP_958786.1:p.Thr881Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2642C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2642C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr881Met"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr881Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}