{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA463534546",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.5241G>A (p.Thr1747=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1139188[alleleid]",
        "alleleId": 1139188,
        "preferredName": "NM_201384.3(PLEC):c.5241G>A (p.Thr1747=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1151961",
        "RCV": [
          "RCV001493080",
          "RCV003136090"
        ],
        "variationId": 1151961
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144998856C>T?assembly=hg19",
        "id": "chr8:g.144998856C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1216335768",
        "rs": 1216335768
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143924688-C-T?dataset=gnomad_r3",
        "id": "8-143924688-C-T",
        "variant": "8:143924688 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143924688-C-T?dataset=gnomad_r4",
        "id": "8-143924688-C-T",
        "variant": "8:143924688 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143924688,
          "referenceAllele": "C",
          "start": 143924687
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143924688C>T",
        "CM000670.2:g.143924688C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144998856,
          "referenceAllele": "C",
          "start": 144998855
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144998856C>T",
        "CM000670.1:g.144998856C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145070844,
          "referenceAllele": "C",
          "start": 145070843
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145070844C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57058,
          "referenceAllele": "G",
          "start": 57057
        }
      ],
      "hgvs": [
        "NG_012492.1:g.57058G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5379,
          "referenceAllele": "G",
          "start": 5378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.5373G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Thr1791="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5334,
          "referenceAllele": "G",
          "start": 5333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.5292G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Thr1764="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5292,
          "referenceAllele": "G",
          "start": 5291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.4959G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Thr1653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5185,
          "referenceAllele": "G",
          "start": 5184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.5172G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Thr1724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5377,
          "referenceAllele": "G",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.5241G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr1747="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.5241G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.5241G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr1747="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr1747="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4163,
          "endIntronDirection": "+",
          "endIntronOffset": 2096,
          "referenceAllele": "G",
          "start": 4163,
          "startIntronDirection": "+",
          "startIntronOffset": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4125+2096G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:n.4125+2096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5822,
          "referenceAllele": "G",
          "start": 5821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.5652G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Thr1884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5370,
          "referenceAllele": "G",
          "start": 5369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.5241G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr1747="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5309,
          "referenceAllele": "G",
          "start": 5308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.5241G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Thr1747="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5324,
          "referenceAllele": "G",
          "start": 5323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.5175G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Thr1725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5256,
          "referenceAllele": "G",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.5199G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Thr1733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.5199G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.5199G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr1733="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr1733="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5262,
          "referenceAllele": "G",
          "start": 5261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.5253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Thr1751="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5219,
          "referenceAllele": "G",
          "start": 5218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.5145G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Thr1715="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5360,
          "referenceAllele": "G",
          "start": 5359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.5322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Thr1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5310,
          "referenceAllele": "G",
          "start": 5309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.5310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Thr1770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "endIntronDirection": "+",
          "endIntronOffset": 2096,
          "referenceAllele": "G",
          "start": 134,
          "startIntronDirection": "+",
          "startIntronOffset": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.1:c.134+2096G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173977",
      "coordinates": [
        {
          "allele": "A",
          "end": 5371,
          "referenceAllele": "G",
          "start": 5370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.5322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830477445",
      "coordinates": [
        {
          "allele": "A",
          "end": 5256,
          "referenceAllele": "G",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.5199G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr1733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830484539",
      "coordinates": [
        {
          "allele": "A",
          "end": 5324,
          "referenceAllele": "G",
          "start": 5323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.5175G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr1725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488758",
      "coordinates": [
        {
          "allele": "A",
          "end": 5822,
          "referenceAllele": "G",
          "start": 5821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.5652G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr1884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830491447",
      "coordinates": [
        {
          "allele": "A",
          "end": 5219,
          "referenceAllele": "G",
          "start": 5218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.5145G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr1715="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830496084",
      "coordinates": [
        {
          "allele": "A",
          "end": 5309,
          "referenceAllele": "G",
          "start": 5308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.5241G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr1747="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500694",
      "coordinates": [
        {
          "allele": "A",
          "end": 5262,
          "referenceAllele": "G",
          "start": 5261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.5253G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr1751="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830505328",
      "coordinates": [
        {
          "allele": "A",
          "end": 5370,
          "referenceAllele": "G",
          "start": 5369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.5241G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr1747="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5770,
          "referenceAllele": "G",
          "start": 5769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.5667G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr1889="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5370,
          "referenceAllele": "G",
          "start": 5369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.5268G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr1756="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5313,
          "referenceAllele": "G",
          "start": 5312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.5256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr1752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5403,
          "referenceAllele": "G",
          "start": 5402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.5256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr1752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5256,
          "referenceAllele": "G",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.5214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr1738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5255,
          "referenceAllele": "G",
          "start": 5254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.5190G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr1730="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5187,
          "referenceAllele": "G",
          "start": 5186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.5172G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Thr1724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5246,
          "referenceAllele": "G",
          "start": 5245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.5160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr1720="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5433,
          "referenceAllele": "G",
          "start": 5432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.5337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5202,
          "referenceAllele": "G",
          "start": 5201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.5187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Thr1729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5202,
          "referenceAllele": "G",
          "start": 5201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.5187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr1729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5358,
          "referenceAllele": "G",
          "start": 5357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.5256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr1752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5187,
          "referenceAllele": "G",
          "start": 5186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.5172G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr1724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4166,
          "endIntronDirection": "+",
          "endIntronOffset": 2096,
          "referenceAllele": "G",
          "start": 4166,
          "startIntronDirection": "+",
          "startIntronOffset": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4071+2096G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4071+2096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5863,
          "referenceAllele": "G",
          "start": 5862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.5667G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr1889="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5389,
          "referenceAllele": "G",
          "start": 5388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.5268G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr1756="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5348,
          "referenceAllele": "G",
          "start": 5347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.5256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr1752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5433,
          "referenceAllele": "G",
          "start": 5432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.5256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr1752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5270,
          "referenceAllele": "G",
          "start": 5269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.5214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr1738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5259,
          "referenceAllele": "G",
          "start": 5258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.5190G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr1730="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6667,
          "referenceAllele": "G",
          "start": 6666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.5160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr1720="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5441,
          "referenceAllele": "G",
          "start": 5440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.5337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5312,
          "referenceAllele": "G",
          "start": 5311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.5187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr1729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5377,
          "referenceAllele": "G",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.5256G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr1752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5296,
          "referenceAllele": "G",
          "start": 5295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.5172G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr1724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4188,
          "endIntronDirection": "+",
          "endIntronOffset": 2096,
          "referenceAllele": "G",
          "start": 4188,
          "startIntronDirection": "+",
          "startIntronOffset": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4071+2096G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4071+2096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173977",
      "coordinates": [
        {
          "allele": "A",
          "end": 5371,
          "referenceAllele": "G",
          "start": 5370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.5322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr1774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830477445",
      "coordinates": [
        {
          "allele": "A",
          "end": 5256,
          "referenceAllele": "G",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.5199G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr1733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.5199G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.5199G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr1733="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr1733="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830484539",
      "coordinates": [
        {
          "allele": "A",
          "end": 5238,
          "referenceAllele": "G",
          "start": 5237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.5175G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr1725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488758",
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.5652G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr1884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830491447",
      "coordinates": [
        {
          "allele": "A",
          "end": 5252,
          "referenceAllele": "G",
          "start": 5251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.5145G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr1715="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830496084",
      "coordinates": [
        {
          "allele": "A",
          "end": 5336,
          "referenceAllele": "G",
          "start": 5335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.5241G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr1747="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500694",
      "coordinates": [
        {
          "allele": "A",
          "end": 5362,
          "referenceAllele": "G",
          "start": 5361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.5253G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr1751="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830505328",
      "coordinates": [
        {
          "allele": "A",
          "end": 5377,
          "referenceAllele": "G",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.5241G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr1747="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.5241G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.5241G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr1747="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr1747="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}