{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4924840",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.9828G>A (p.Thr3276=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2869598",
        "active": true,
        "id": "COSM2869598"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2869599",
        "active": true,
        "id": "COSM2869599"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2869600",
        "active": true,
        "id": "COSM2869600"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2869601",
        "active": true,
        "id": "COSM2869601"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4365821",
        "active": true,
        "id": "COSM4365821"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4365822",
        "active": true,
        "id": "COSM4365822"
      },
      {
        "active": false,
        "id": "COSM5595138"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=267894[alleleid]",
        "alleleId": 267894,
        "preferredName": "NM_201384.3(PLEC):c.9828G>A (p.Thr3276=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283657",
        "RCV": [
          "RCV000279723",
          "RCV001455487"
        ],
        "variationId": 283657
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144994161-C-T",
        "id": "8-144994161-C-T",
        "variant": "8:144994161 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144994161C>T?assembly=hg19",
        "id": "chr8:g.144994161C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143919993C>T?assembly=hg38",
        "id": "chr8:g.143919993C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201736785",
        "rs": 201736785
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144994161-C-T?dataset=gnomad_r2_1",
        "id": "8-144994161-C-T",
        "variant": "8:144994161 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919993-C-T?dataset=gnomad_r3",
        "id": "8-143919993-C-T",
        "variant": "8:143919993 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919993-C-T?dataset=gnomad_r4",
        "id": "8-143919993-C-T",
        "variant": "8:143919993 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143919993,
          "referenceAllele": "C",
          "start": 143919992
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143919993C>T",
        "CM000670.2:g.143919993C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144994161,
          "referenceAllele": "C",
          "start": 144994160
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144994161C>T",
        "CM000670.1:g.144994161C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145066149,
          "referenceAllele": "C",
          "start": 145066148
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145066149C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61753,
          "referenceAllele": "G",
          "start": 61752
        }
      ],
      "hgvs": [
        "NG_012492.1:g.61753G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9966,
          "referenceAllele": "G",
          "start": 9965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.9960G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Thr3320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9921,
          "referenceAllele": "G",
          "start": 9920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.9879G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Thr3293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9879,
          "referenceAllele": "G",
          "start": 9878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.9546G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Thr3182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9772,
          "referenceAllele": "G",
          "start": 9771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.9759G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Thr3253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9964,
          "referenceAllele": "G",
          "start": 9963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.9828G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr3276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9828G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9828G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr3276="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr3276="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6566,
          "referenceAllele": "G",
          "start": 6565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.6528G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Thr2176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10409,
          "referenceAllele": "G",
          "start": 10408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.10239G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Thr3413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9957,
          "referenceAllele": "G",
          "start": 9956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.9828G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr3276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9896,
          "referenceAllele": "G",
          "start": 9895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.9828G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Thr3276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9911,
          "referenceAllele": "G",
          "start": 9910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.9762G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Thr3254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9843,
          "referenceAllele": "G",
          "start": 9842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.9786G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Thr3262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9786G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9786G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr3262="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr3262="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9849,
          "referenceAllele": "G",
          "start": 9848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.9840G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Thr3280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9806,
          "referenceAllele": "G",
          "start": 9805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.9732G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Thr3244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9947,
          "referenceAllele": "G",
          "start": 9946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.9909G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Thr3303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9897,
          "referenceAllele": "G",
          "start": 9896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.9897G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Thr3299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175729",
      "coordinates": [
        {
          "allele": "A",
          "end": 9958,
          "referenceAllele": "G",
          "start": 9957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.9909G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr3303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480267",
      "coordinates": [
        {
          "allele": "A",
          "end": 9843,
          "referenceAllele": "G",
          "start": 9842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.9786G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr3262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486808",
      "coordinates": [
        {
          "allele": "A",
          "end": 9911,
          "referenceAllele": "G",
          "start": 9910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.9762G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr3254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489353",
      "coordinates": [
        {
          "allele": "A",
          "end": 10409,
          "referenceAllele": "G",
          "start": 10408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.10239G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr3413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493199",
      "coordinates": [
        {
          "allele": "A",
          "end": 9806,
          "referenceAllele": "G",
          "start": 9805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.9732G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr3244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497835",
      "coordinates": [
        {
          "allele": "A",
          "end": 9896,
          "referenceAllele": "G",
          "start": 9895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.9828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr3276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502446",
      "coordinates": [
        {
          "allele": "A",
          "end": 9849,
          "referenceAllele": "G",
          "start": 9848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.9840G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr3280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507080",
      "coordinates": [
        {
          "allele": "A",
          "end": 9957,
          "referenceAllele": "G",
          "start": 9956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.9828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr3276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10357,
          "referenceAllele": "G",
          "start": 10356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.10254G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr3418="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9957,
          "referenceAllele": "G",
          "start": 9956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.9855G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr3285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9900,
          "referenceAllele": "G",
          "start": 9899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.9843G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr3281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9990,
          "referenceAllele": "G",
          "start": 9989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.9843G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr3281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9843,
          "referenceAllele": "G",
          "start": 9842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.9801G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr3267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9842,
          "referenceAllele": "G",
          "start": 9841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.9777G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr3259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9774,
          "referenceAllele": "G",
          "start": 9773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.9759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Thr3253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9833,
          "referenceAllele": "G",
          "start": 9832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.9747G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr3249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10020,
          "referenceAllele": "G",
          "start": 10019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.9924G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr3308="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9789,
          "referenceAllele": "G",
          "start": 9788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.9774G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Thr3258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9789,
          "referenceAllele": "G",
          "start": 9788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.9774G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr3258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9945,
          "referenceAllele": "G",
          "start": 9944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.9843G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr3281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9774,
          "referenceAllele": "G",
          "start": 9773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.9759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr3253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6569,
          "referenceAllele": "G",
          "start": 6568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.6474G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr2158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10450,
          "referenceAllele": "G",
          "start": 10449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.10254G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr3418="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9976,
          "referenceAllele": "G",
          "start": 9975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.9855G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr3285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9935,
          "referenceAllele": "G",
          "start": 9934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.9843G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr3281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10020,
          "referenceAllele": "G",
          "start": 10019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.9843G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr3281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9857,
          "referenceAllele": "G",
          "start": 9856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.9801G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr3267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9846,
          "referenceAllele": "G",
          "start": 9845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.9777G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr3259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11254,
          "referenceAllele": "G",
          "start": 11253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.9747G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr3249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10028,
          "referenceAllele": "G",
          "start": 10027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.9924G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr3308="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9899,
          "referenceAllele": "G",
          "start": 9898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.9774G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr3258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9964,
          "referenceAllele": "G",
          "start": 9963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.9843G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr3281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9883,
          "referenceAllele": "G",
          "start": 9882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.9759G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr3253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6591,
          "referenceAllele": "G",
          "start": 6590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.6474G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr2158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175729",
      "coordinates": [
        {
          "allele": "A",
          "end": 9958,
          "referenceAllele": "G",
          "start": 9957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.9909G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr3303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480267",
      "coordinates": [
        {
          "allele": "A",
          "end": 9843,
          "referenceAllele": "G",
          "start": 9842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.9786G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr3262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9786G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9786G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr3262="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr3262="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486808",
      "coordinates": [
        {
          "allele": "A",
          "end": 9825,
          "referenceAllele": "G",
          "start": 9824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.9762G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr3254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489353",
      "coordinates": [
        {
          "allele": "A",
          "end": 10459,
          "referenceAllele": "G",
          "start": 10458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.10239G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr3413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493199",
      "coordinates": [
        {
          "allele": "A",
          "end": 9839,
          "referenceAllele": "G",
          "start": 9838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.9732G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr3244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497835",
      "coordinates": [
        {
          "allele": "A",
          "end": 9923,
          "referenceAllele": "G",
          "start": 9922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.9828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr3276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502446",
      "coordinates": [
        {
          "allele": "A",
          "end": 9949,
          "referenceAllele": "G",
          "start": 9948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.9840G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr3280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507080",
      "coordinates": [
        {
          "allele": "A",
          "end": 9964,
          "referenceAllele": "G",
          "start": 9963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.9828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr3276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9828G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9828G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr3276="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr3276="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}