{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA244065",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.7101G>A (p.Thr2367=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193921[alleleid]",
        "alleleId": 193921,
        "preferredName": "NM_201384.3(PLEC):c.7101G>A (p.Thr2367=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196760",
        "RCV": [
          "RCV000177624",
          "RCV001082061"
        ],
        "variationId": 196760
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144996996-C-T",
        "id": "8-144996996-C-T",
        "variant": "8:144996996 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144996996C>T?assembly=hg19",
        "id": "chr8:g.144996996C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143922828C>T?assembly=hg38",
        "id": "chr8:g.143922828C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202132558",
        "rs": 202132558
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144996996-C-T?dataset=gnomad_r2_1",
        "id": "8-144996996-C-T",
        "variant": "8:144996996 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143922828-C-T?dataset=gnomad_r3",
        "id": "8-143922828-C-T",
        "variant": "8:143922828 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143922828-C-T?dataset=gnomad_r4",
        "id": "8-143922828-C-T",
        "variant": "8:143922828 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143922828,
          "referenceAllele": "C",
          "start": 143922827
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143922828C>T",
        "CM000670.2:g.143922828C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144996996,
          "referenceAllele": "C",
          "start": 144996995
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144996996C>T",
        "CM000670.1:g.144996996C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145068984,
          "referenceAllele": "C",
          "start": 145068983
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145068984C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58918,
          "referenceAllele": "G",
          "start": 58917
        }
      ],
      "hgvs": [
        "NG_012492.1:g.58918G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7239,
          "referenceAllele": "G",
          "start": 7238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.7233G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Thr2411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7194,
          "referenceAllele": "G",
          "start": 7193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.7152G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Thr2384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7152,
          "referenceAllele": "G",
          "start": 7151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.6819G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Thr2273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7045,
          "referenceAllele": "G",
          "start": 7044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.7032G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Thr2344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7237,
          "referenceAllele": "G",
          "start": 7236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.7101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr2367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.7101G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.7101G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr2367="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr2367="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4163,
          "endIntronDirection": "-",
          "endIntronOffset": 432,
          "referenceAllele": "G",
          "start": 4163,
          "startIntronDirection": "-",
          "startIntronOffset": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4126-433G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:n.4126-433G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7682,
          "referenceAllele": "G",
          "start": 7681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.7512G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Thr2504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7230,
          "referenceAllele": "G",
          "start": 7229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.7101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr2367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7169,
          "referenceAllele": "G",
          "start": 7168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.7101G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Thr2367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7184,
          "referenceAllele": "G",
          "start": 7183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.7035G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Thr2345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7116,
          "referenceAllele": "G",
          "start": 7115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.7059G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Thr2353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.7059G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.7059G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr2353="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr2353="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7122,
          "referenceAllele": "G",
          "start": 7121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.7113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Thr2371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7079,
          "referenceAllele": "G",
          "start": 7078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.7005G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Thr2335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7220,
          "referenceAllele": "G",
          "start": 7219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.7182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Thr2394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7170,
          "referenceAllele": "G",
          "start": 7169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.7170G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Thr2390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "endIntronDirection": "-",
          "endIntronOffset": 432,
          "referenceAllele": "G",
          "start": 134,
          "startIntronDirection": "-",
          "startIntronOffset": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.1:c.135-433G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825174758",
      "coordinates": [
        {
          "allele": "A",
          "end": 7231,
          "referenceAllele": "G",
          "start": 7230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.7182G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr2394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830478960",
      "coordinates": [
        {
          "allele": "A",
          "end": 7116,
          "referenceAllele": "G",
          "start": 7115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.7059G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr2353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830485730",
      "coordinates": [
        {
          "allele": "A",
          "end": 7184,
          "referenceAllele": "G",
          "start": 7183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.7035G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr2345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489015",
      "coordinates": [
        {
          "allele": "A",
          "end": 7682,
          "referenceAllele": "G",
          "start": 7681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.7512G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr2504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492228",
      "coordinates": [
        {
          "allele": "A",
          "end": 7079,
          "referenceAllele": "G",
          "start": 7078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.7005G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr2335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830496863",
      "coordinates": [
        {
          "allele": "A",
          "end": 7169,
          "referenceAllele": "G",
          "start": 7168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.7101G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr2367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501475",
      "coordinates": [
        {
          "allele": "A",
          "end": 7122,
          "referenceAllele": "G",
          "start": 7121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.7113G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr2371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506109",
      "coordinates": [
        {
          "allele": "A",
          "end": 7230,
          "referenceAllele": "G",
          "start": 7229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.7101G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr2367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7630,
          "referenceAllele": "G",
          "start": 7629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.7527G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr2509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7230,
          "referenceAllele": "G",
          "start": 7229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.7128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr2376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7173,
          "referenceAllele": "G",
          "start": 7172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.7116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr2372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7263,
          "referenceAllele": "G",
          "start": 7262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.7116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr2372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7116,
          "referenceAllele": "G",
          "start": 7115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.7074G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr2358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7115,
          "referenceAllele": "G",
          "start": 7114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.7050G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr2350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7047,
          "referenceAllele": "G",
          "start": 7046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.7032G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Thr2344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7106,
          "referenceAllele": "G",
          "start": 7105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.7020G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr2340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7293,
          "referenceAllele": "G",
          "start": 7292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.7197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr2399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7062,
          "referenceAllele": "G",
          "start": 7061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.7047G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Thr2349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7062,
          "referenceAllele": "G",
          "start": 7061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.7047G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr2349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7218,
          "referenceAllele": "G",
          "start": 7217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.7116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr2372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7047,
          "referenceAllele": "G",
          "start": 7046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.7032G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr2344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4166,
          "endIntronDirection": "-",
          "endIntronOffset": 432,
          "referenceAllele": "G",
          "start": 4166,
          "startIntronDirection": "-",
          "startIntronOffset": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4072-433G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4072-433G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7723,
          "referenceAllele": "G",
          "start": 7722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.7527G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr2509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7249,
          "referenceAllele": "G",
          "start": 7248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.7128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr2376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7208,
          "referenceAllele": "G",
          "start": 7207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.7116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr2372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7293,
          "referenceAllele": "G",
          "start": 7292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.7116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr2372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7130,
          "referenceAllele": "G",
          "start": 7129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.7074G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr2358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7119,
          "referenceAllele": "G",
          "start": 7118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.7050G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr2350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8527,
          "referenceAllele": "G",
          "start": 8526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.7020G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr2340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7301,
          "referenceAllele": "G",
          "start": 7300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.7197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr2399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7172,
          "referenceAllele": "G",
          "start": 7171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.7047G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr2349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7237,
          "referenceAllele": "G",
          "start": 7236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.7116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr2372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7156,
          "referenceAllele": "G",
          "start": 7155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.7032G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr2344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4188,
          "endIntronDirection": "-",
          "endIntronOffset": 432,
          "referenceAllele": "G",
          "start": 4188,
          "startIntronDirection": "-",
          "startIntronOffset": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4072-433G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4072-433G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825174758",
      "coordinates": [
        {
          "allele": "A",
          "end": 7231,
          "referenceAllele": "G",
          "start": 7230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.7182G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr2394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830478960",
      "coordinates": [
        {
          "allele": "A",
          "end": 7116,
          "referenceAllele": "G",
          "start": 7115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.7059G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr2353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.7059G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.7059G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr2353="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr2353="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830485730",
      "coordinates": [
        {
          "allele": "A",
          "end": 7098,
          "referenceAllele": "G",
          "start": 7097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.7035G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr2345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489015",
      "coordinates": [
        {
          "allele": "A",
          "end": 7732,
          "referenceAllele": "G",
          "start": 7731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.7512G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr2504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492228",
      "coordinates": [
        {
          "allele": "A",
          "end": 7112,
          "referenceAllele": "G",
          "start": 7111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.7005G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr2335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830496863",
      "coordinates": [
        {
          "allele": "A",
          "end": 7196,
          "referenceAllele": "G",
          "start": 7195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.7101G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr2367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501475",
      "coordinates": [
        {
          "allele": "A",
          "end": 7222,
          "referenceAllele": "G",
          "start": 7221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.7113G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr2371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506109",
      "coordinates": [
        {
          "allele": "A",
          "end": 7237,
          "referenceAllele": "G",
          "start": 7236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.7101G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr2367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.7101G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.7101G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr2367="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr2367="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}