{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4925528",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274965[alleleid]",
        "alleleId": 274965,
        "preferredName": "NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290728",
        "RCV": [
          "RCV000696993",
          "RCV000399731"
        ],
        "variationId": 290728
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144996248-G-A",
        "id": "8-144996248-G-A",
        "variant": "8:144996248 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144996248G>A?assembly=hg19",
        "id": "chr8:g.144996248G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143922080G>A?assembly=hg38",
        "id": "chr8:g.143922080G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782485083",
        "rs": 782485083
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144996248-G-A?dataset=gnomad_r2_1",
        "id": "8-144996248-G-A",
        "variant": "8:144996248 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143922080-G-A?dataset=gnomad_r3",
        "id": "8-143922080-G-A",
        "variant": "8:143922080 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143922080-G-A?dataset=gnomad_r4",
        "id": "8-143922080-G-A",
        "variant": "8:143922080 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143922080,
          "referenceAllele": "G",
          "start": 143922079
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143922080G>A",
        "CM000670.2:g.143922080G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144996248,
          "referenceAllele": "G",
          "start": 144996247
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144996248G>A",
        "CM000670.1:g.144996248G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145068236,
          "referenceAllele": "G",
          "start": 145068235
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145068236G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59666,
          "referenceAllele": "C",
          "start": 59665
        }
      ],
      "hgvs": [
        "NG_012492.1:g.59666C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7879,
          "referenceAllele": "C",
          "start": 7878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.7873C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Arg2625Trp",
        "hgvsWellDefined": "ENSP00000437303.2:p.Arg2625Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7834,
          "referenceAllele": "C",
          "start": 7833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.7792C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Arg2598Trp",
        "hgvsWellDefined": "ENSP00000510528.1:p.Arg2598Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7792,
          "referenceAllele": "C",
          "start": 7791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.7459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Arg2487Trp",
        "hgvsWellDefined": "ENSP00000510788.1:p.Arg2487Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7685,
          "referenceAllele": "C",
          "start": 7684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.7672C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Arg2558Trp",
        "hgvsWellDefined": "ENSP00000510329.1:p.Arg2558Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7877,
          "referenceAllele": "C",
          "start": 7876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.7741C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg2581Trp",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg2581Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.7741C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.7741C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg2581Trp"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg2581Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4479,
          "referenceAllele": "C",
          "start": 4478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4441C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Arg1481Trp",
        "hgvsWellDefined": "ENSP00000433982.2:p.Arg1481Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8322,
          "referenceAllele": "C",
          "start": 8321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.8152C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Arg2718Trp",
        "hgvsWellDefined": "ENSP00000323856.4:p.Arg2718Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7870,
          "referenceAllele": "C",
          "start": 7869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.7741C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg2581Trp",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg2581Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7809,
          "referenceAllele": "C",
          "start": 7808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.7741C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Arg2581Trp",
        "hgvsWellDefined": "ENSP00000346602.3:p.Arg2581Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7824,
          "referenceAllele": "C",
          "start": 7823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.7675C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Arg2559Trp",
        "hgvsWellDefined": "ENSP00000347044.2:p.Arg2559Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7756,
          "referenceAllele": "C",
          "start": 7755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.7699C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Arg2567Trp",
        "hgvsWellDefined": "ENSP00000348702.3:p.Arg2567Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.7699C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.7699C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg2567Trp"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg2567Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7762,
          "referenceAllele": "C",
          "start": 7761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.7753C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Arg2585Trp",
        "hgvsWellDefined": "ENSP00000350277.2:p.Arg2585Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7719,
          "referenceAllele": "C",
          "start": 7718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.7645C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Arg2549Trp",
        "hgvsWellDefined": "ENSP00000381756.2:p.Arg2549Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7860,
          "referenceAllele": "C",
          "start": 7859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.7822C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Arg2608Trp",
        "hgvsWellDefined": "ENSP00000388180.2:p.Arg2608Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7810,
          "referenceAllele": "C",
          "start": 7809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.7810C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Arg2604Trp",
        "hgvsWellDefined": "ENSP00000434583.1:p.Arg2604Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.1:c.450C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175001",
      "coordinates": [
        {
          "allele": "T",
          "end": 7871,
          "referenceAllele": "C",
          "start": 7870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.7822C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg2608Trp",
        "hgvsWellDefined": "NP_000436.2:p.Arg2608Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479289",
      "coordinates": [
        {
          "allele": "T",
          "end": 7756,
          "referenceAllele": "C",
          "start": 7755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.7699C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg2567Trp",
        "hgvsWellDefined": "NP_958780.1:p.Arg2567Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486081",
      "coordinates": [
        {
          "allele": "T",
          "end": 7824,
          "referenceAllele": "C",
          "start": 7823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.7675C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg2559Trp",
        "hgvsWellDefined": "NP_958781.1:p.Arg2559Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458419",
      "coordinates": [
        {
          "allele": "T",
          "end": 8322,
          "referenceAllele": "C",
          "start": 8321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.8152C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg2718Trp",
        "hgvsWellDefined": "NP_958782.1:p.Arg2718Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492471",
      "coordinates": [
        {
          "allele": "T",
          "end": 7719,
          "referenceAllele": "C",
          "start": 7718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.7645C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg2549Trp",
        "hgvsWellDefined": "NP_958783.1:p.Arg2549Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497107",
      "coordinates": [
        {
          "allele": "T",
          "end": 7809,
          "referenceAllele": "C",
          "start": 7808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.7741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg2581Trp",
        "hgvsWellDefined": "NP_958784.1:p.Arg2581Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501718",
      "coordinates": [
        {
          "allele": "T",
          "end": 7762,
          "referenceAllele": "C",
          "start": 7761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.7753C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg2585Trp",
        "hgvsWellDefined": "NP_958785.1:p.Arg2585Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506352",
      "coordinates": [
        {
          "allele": "T",
          "end": 7870,
          "referenceAllele": "C",
          "start": 7869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.7741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg2581Trp",
        "hgvsWellDefined": "NP_958786.1:p.Arg2581Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8270,
          "referenceAllele": "C",
          "start": 8269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.8167C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg2723Trp",
        "hgvsWellDefined": "XP_005251033.1:p.Arg2723Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7870,
          "referenceAllele": "C",
          "start": 7869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.7768C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg2590Trp",
        "hgvsWellDefined": "XP_005251035.1:p.Arg2590Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7813,
          "referenceAllele": "C",
          "start": 7812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.7756C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg2586Trp",
        "hgvsWellDefined": "XP_005251036.1:p.Arg2586Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7903,
          "referenceAllele": "C",
          "start": 7902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.7756C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg2586Trp",
        "hgvsWellDefined": "XP_005251037.1:p.Arg2586Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7756,
          "referenceAllele": "C",
          "start": 7755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.7714C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg2572Trp",
        "hgvsWellDefined": "XP_005251038.1:p.Arg2572Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7755,
          "referenceAllele": "C",
          "start": 7754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.7690C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg2564Trp",
        "hgvsWellDefined": "XP_005251039.1:p.Arg2564Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7687,
          "referenceAllele": "C",
          "start": 7686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.7672C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Arg2558Trp",
        "hgvsWellDefined": "XP_005251040.1:p.Arg2558Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7746,
          "referenceAllele": "C",
          "start": 7745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.7660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg2554Trp",
        "hgvsWellDefined": "XP_005251041.1:p.Arg2554Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7933,
          "referenceAllele": "C",
          "start": 7932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.7837C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg2613Trp",
        "hgvsWellDefined": "XP_006716651.1:p.Arg2613Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7702,
          "referenceAllele": "C",
          "start": 7701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.7687C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Arg2563Trp",
        "hgvsWellDefined": "XP_006716652.1:p.Arg2563Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7702,
          "referenceAllele": "C",
          "start": 7701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.7687C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg2563Trp",
        "hgvsWellDefined": "XP_006716653.1:p.Arg2563Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7858,
          "referenceAllele": "C",
          "start": 7857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.7756C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg2586Trp",
        "hgvsWellDefined": "XP_011515432.1:p.Arg2586Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7687,
          "referenceAllele": "C",
          "start": 7686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.7672C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg2558Trp",
        "hgvsWellDefined": "XP_011515433.1:p.Arg2558Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4482,
          "referenceAllele": "C",
          "start": 4481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4387C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg1463Trp",
        "hgvsWellDefined": "XP_011515434.1:p.Arg1463Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8363,
          "referenceAllele": "C",
          "start": 8362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.8167C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg2723Trp",
        "hgvsWellDefined": "XP_005251033.1:p.Arg2723Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7889,
          "referenceAllele": "C",
          "start": 7888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.7768C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg2590Trp",
        "hgvsWellDefined": "XP_005251035.1:p.Arg2590Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7848,
          "referenceAllele": "C",
          "start": 7847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.7756C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg2586Trp",
        "hgvsWellDefined": "XP_005251036.1:p.Arg2586Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7933,
          "referenceAllele": "C",
          "start": 7932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.7756C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg2586Trp",
        "hgvsWellDefined": "XP_005251037.1:p.Arg2586Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7770,
          "referenceAllele": "C",
          "start": 7769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.7714C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg2572Trp",
        "hgvsWellDefined": "XP_005251038.1:p.Arg2572Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7759,
          "referenceAllele": "C",
          "start": 7758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.7690C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg2564Trp",
        "hgvsWellDefined": "XP_005251039.1:p.Arg2564Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9167,
          "referenceAllele": "C",
          "start": 9166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.7660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg2554Trp",
        "hgvsWellDefined": "XP_005251041.1:p.Arg2554Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7941,
          "referenceAllele": "C",
          "start": 7940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.7837C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg2613Trp",
        "hgvsWellDefined": "XP_006716651.1:p.Arg2613Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7812,
          "referenceAllele": "C",
          "start": 7811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.7687C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg2563Trp",
        "hgvsWellDefined": "XP_006716653.1:p.Arg2563Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7877,
          "referenceAllele": "C",
          "start": 7876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.7756C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg2586Trp",
        "hgvsWellDefined": "XP_011515432.1:p.Arg2586Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7796,
          "referenceAllele": "C",
          "start": 7795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.7672C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg2558Trp",
        "hgvsWellDefined": "XP_011515433.1:p.Arg2558Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4504,
          "referenceAllele": "C",
          "start": 4503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4387C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg1463Trp",
        "hgvsWellDefined": "XP_011515434.1:p.Arg1463Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175001",
      "coordinates": [
        {
          "allele": "T",
          "end": 7871,
          "referenceAllele": "C",
          "start": 7870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.7822C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg2608Trp",
        "hgvsWellDefined": "NP_000436.2:p.Arg2608Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479289",
      "coordinates": [
        {
          "allele": "T",
          "end": 7756,
          "referenceAllele": "C",
          "start": 7755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.7699C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg2567Trp",
        "hgvsWellDefined": "NP_958780.1:p.Arg2567Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.7699C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.7699C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg2567Trp"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg2567Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486081",
      "coordinates": [
        {
          "allele": "T",
          "end": 7738,
          "referenceAllele": "C",
          "start": 7737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.7675C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg2559Trp",
        "hgvsWellDefined": "NP_958781.1:p.Arg2559Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458419",
      "coordinates": [
        {
          "allele": "T",
          "end": 8372,
          "referenceAllele": "C",
          "start": 8371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.8152C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg2718Trp",
        "hgvsWellDefined": "NP_958782.1:p.Arg2718Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492471",
      "coordinates": [
        {
          "allele": "T",
          "end": 7752,
          "referenceAllele": "C",
          "start": 7751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.7645C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg2549Trp",
        "hgvsWellDefined": "NP_958783.1:p.Arg2549Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497107",
      "coordinates": [
        {
          "allele": "T",
          "end": 7836,
          "referenceAllele": "C",
          "start": 7835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.7741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg2581Trp",
        "hgvsWellDefined": "NP_958784.1:p.Arg2581Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501718",
      "coordinates": [
        {
          "allele": "T",
          "end": 7862,
          "referenceAllele": "C",
          "start": 7861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.7753C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg2585Trp",
        "hgvsWellDefined": "NP_958785.1:p.Arg2585Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506352",
      "coordinates": [
        {
          "allele": "T",
          "end": 7877,
          "referenceAllele": "C",
          "start": 7876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.7741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg2581Trp",
        "hgvsWellDefined": "NP_958786.1:p.Arg2581Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.7741C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.7741C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg2581Trp"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg2581Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}