{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA244352",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193989[alleleid]",
        "alleleId": 193989,
        "preferredName": "NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196828",
        "RCV": [
          "RCV000557331",
          "RCV000585029"
        ],
        "variationId": 196828
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144992782-G-A",
        "id": "8-144992782-G-A",
        "variant": "8:144992782 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144992782G>A?assembly=hg19",
        "id": "chr8:g.144992782G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143918614G>A?assembly=hg38",
        "id": "chr8:g.143918614G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77146441",
        "rs": 77146441
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144992782-G-A?dataset=gnomad_r2_1",
        "id": "8-144992782-G-A",
        "variant": "8:144992782 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143918614-G-A?dataset=gnomad_r3",
        "id": "8-143918614-G-A",
        "variant": "8:143918614 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143918614-G-A?dataset=gnomad_r4",
        "id": "8-143918614-G-A",
        "variant": "8:143918614 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143918614,
          "referenceAllele": "G",
          "start": 143918613
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143918614G>A",
        "CM000670.2:g.143918614G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144992782,
          "referenceAllele": "G",
          "start": 144992781
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144992782G>A",
        "CM000670.1:g.144992782G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145064770,
          "referenceAllele": "G",
          "start": 145064769
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145064770G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63132,
          "referenceAllele": "C",
          "start": 63131
        }
      ],
      "hgvs": [
        "NG_012492.1:g.63132C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11345,
          "referenceAllele": "C",
          "start": 11344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.11339C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Pro3780Leu",
        "hgvsWellDefined": "ENSP00000437303.2:p.Pro3780Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11300,
          "referenceAllele": "C",
          "start": 11299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.11258C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Pro3753Leu",
        "hgvsWellDefined": "ENSP00000510528.1:p.Pro3753Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11258,
          "referenceAllele": "C",
          "start": 11257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.10925C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Pro3642Leu",
        "hgvsWellDefined": "ENSP00000510788.1:p.Pro3642Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11151,
          "referenceAllele": "C",
          "start": 11150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.11138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Pro3713Leu",
        "hgvsWellDefined": "ENSP00000510329.1:p.Pro3713Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11343,
          "referenceAllele": "C",
          "start": 11342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.11207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro3736Leu",
        "hgvsWellDefined": "ENSP00000344848.3:p.Pro3736Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.11207C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.11207C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro3736Leu"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro3736Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7945,
          "referenceAllele": "C",
          "start": 7944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.7907C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Pro2636Leu",
        "hgvsWellDefined": "ENSP00000433982.2:p.Pro2636Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11788,
          "referenceAllele": "C",
          "start": 11787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.11618C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Pro3873Leu",
        "hgvsWellDefined": "ENSP00000323856.4:p.Pro3873Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11336,
          "referenceAllele": "C",
          "start": 11335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.11207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro3736Leu",
        "hgvsWellDefined": "ENSP00000344848.3:p.Pro3736Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11275,
          "referenceAllele": "C",
          "start": 11274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.11207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Pro3736Leu",
        "hgvsWellDefined": "ENSP00000346602.3:p.Pro3736Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11290,
          "referenceAllele": "C",
          "start": 11289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.11141C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Pro3714Leu",
        "hgvsWellDefined": "ENSP00000347044.2:p.Pro3714Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11222,
          "referenceAllele": "C",
          "start": 11221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.11165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Pro3722Leu",
        "hgvsWellDefined": "ENSP00000348702.3:p.Pro3722Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.11165C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.11165C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro3722Leu"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro3722Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11228,
          "referenceAllele": "C",
          "start": 11227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.11219C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Pro3740Leu",
        "hgvsWellDefined": "ENSP00000350277.2:p.Pro3740Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11185,
          "referenceAllele": "C",
          "start": 11184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.11111C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Pro3704Leu",
        "hgvsWellDefined": "ENSP00000381756.2:p.Pro3704Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11326,
          "referenceAllele": "C",
          "start": 11325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.11288C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Pro3763Leu",
        "hgvsWellDefined": "ENSP00000388180.2:p.Pro3763Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11276,
          "referenceAllele": "C",
          "start": 11275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.11276C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Pro3759Leu",
        "hgvsWellDefined": "ENSP00000434583.1:p.Pro3759Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244359",
      "coordinates": [
        {
          "allele": "T",
          "end": 11337,
          "referenceAllele": "C",
          "start": 11336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.11288C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro3763Leu",
        "hgvsWellDefined": "NP_000436.2:p.Pro3763Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244355",
      "coordinates": [
        {
          "allele": "T",
          "end": 11222,
          "referenceAllele": "C",
          "start": 11221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.11165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro3722Leu",
        "hgvsWellDefined": "NP_958780.1:p.Pro3722Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244354",
      "coordinates": [
        {
          "allele": "T",
          "end": 11290,
          "referenceAllele": "C",
          "start": 11289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.11141C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro3714Leu",
        "hgvsWellDefined": "NP_958781.1:p.Pro3714Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244360",
      "coordinates": [
        {
          "allele": "T",
          "end": 11788,
          "referenceAllele": "C",
          "start": 11787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.11618C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro3873Leu",
        "hgvsWellDefined": "NP_958782.1:p.Pro3873Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244353",
      "coordinates": [
        {
          "allele": "T",
          "end": 11185,
          "referenceAllele": "C",
          "start": 11184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.11111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro3704Leu",
        "hgvsWellDefined": "NP_958783.1:p.Pro3704Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244356",
      "coordinates": [
        {
          "allele": "T",
          "end": 11275,
          "referenceAllele": "C",
          "start": 11274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.11207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro3736Leu",
        "hgvsWellDefined": "NP_958784.1:p.Pro3736Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244358",
      "coordinates": [
        {
          "allele": "T",
          "end": 11228,
          "referenceAllele": "C",
          "start": 11227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.11219C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro3740Leu",
        "hgvsWellDefined": "NP_958785.1:p.Pro3740Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244357",
      "coordinates": [
        {
          "allele": "T",
          "end": 11336,
          "referenceAllele": "C",
          "start": 11335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.11207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro3736Leu",
        "hgvsWellDefined": "NP_958786.1:p.Pro3736Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11736,
          "referenceAllele": "C",
          "start": 11735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.11633C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro3878Leu",
        "hgvsWellDefined": "XP_005251033.1:p.Pro3878Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11336,
          "referenceAllele": "C",
          "start": 11335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.11234C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro3745Leu",
        "hgvsWellDefined": "XP_005251035.1:p.Pro3745Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11279,
          "referenceAllele": "C",
          "start": 11278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.11222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro3741Leu",
        "hgvsWellDefined": "XP_005251036.1:p.Pro3741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11369,
          "referenceAllele": "C",
          "start": 11368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.11222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro3741Leu",
        "hgvsWellDefined": "XP_005251037.1:p.Pro3741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11222,
          "referenceAllele": "C",
          "start": 11221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.11180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro3727Leu",
        "hgvsWellDefined": "XP_005251038.1:p.Pro3727Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11221,
          "referenceAllele": "C",
          "start": 11220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.11156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro3719Leu",
        "hgvsWellDefined": "XP_005251039.1:p.Pro3719Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11153,
          "referenceAllele": "C",
          "start": 11152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.11138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Pro3713Leu",
        "hgvsWellDefined": "XP_005251040.1:p.Pro3713Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11212,
          "referenceAllele": "C",
          "start": 11211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.11126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro3709Leu",
        "hgvsWellDefined": "XP_005251041.1:p.Pro3709Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11399,
          "referenceAllele": "C",
          "start": 11398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.11303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro3768Leu",
        "hgvsWellDefined": "XP_006716651.1:p.Pro3768Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11168,
          "referenceAllele": "C",
          "start": 11167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.11153C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Pro3718Leu",
        "hgvsWellDefined": "XP_006716652.1:p.Pro3718Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11168,
          "referenceAllele": "C",
          "start": 11167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.11153C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro3718Leu",
        "hgvsWellDefined": "XP_006716653.1:p.Pro3718Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11324,
          "referenceAllele": "C",
          "start": 11323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.11222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro3741Leu",
        "hgvsWellDefined": "XP_011515432.1:p.Pro3741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11153,
          "referenceAllele": "C",
          "start": 11152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.11138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro3713Leu",
        "hgvsWellDefined": "XP_011515433.1:p.Pro3713Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7948,
          "referenceAllele": "C",
          "start": 7947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.7853C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro2618Leu",
        "hgvsWellDefined": "XP_011515434.1:p.Pro2618Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11829,
          "referenceAllele": "C",
          "start": 11828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.11633C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro3878Leu",
        "hgvsWellDefined": "XP_005251033.1:p.Pro3878Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11355,
          "referenceAllele": "C",
          "start": 11354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.11234C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro3745Leu",
        "hgvsWellDefined": "XP_005251035.1:p.Pro3745Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11314,
          "referenceAllele": "C",
          "start": 11313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.11222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro3741Leu",
        "hgvsWellDefined": "XP_005251036.1:p.Pro3741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11399,
          "referenceAllele": "C",
          "start": 11398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.11222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro3741Leu",
        "hgvsWellDefined": "XP_005251037.1:p.Pro3741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11236,
          "referenceAllele": "C",
          "start": 11235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.11180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro3727Leu",
        "hgvsWellDefined": "XP_005251038.1:p.Pro3727Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11225,
          "referenceAllele": "C",
          "start": 11224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.11156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro3719Leu",
        "hgvsWellDefined": "XP_005251039.1:p.Pro3719Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12633,
          "referenceAllele": "C",
          "start": 12632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.11126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro3709Leu",
        "hgvsWellDefined": "XP_005251041.1:p.Pro3709Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11407,
          "referenceAllele": "C",
          "start": 11406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.11303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro3768Leu",
        "hgvsWellDefined": "XP_006716651.1:p.Pro3768Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11278,
          "referenceAllele": "C",
          "start": 11277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.11153C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro3718Leu",
        "hgvsWellDefined": "XP_006716653.1:p.Pro3718Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11343,
          "referenceAllele": "C",
          "start": 11342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.11222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro3741Leu",
        "hgvsWellDefined": "XP_011515432.1:p.Pro3741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11262,
          "referenceAllele": "C",
          "start": 11261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.11138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro3713Leu",
        "hgvsWellDefined": "XP_011515433.1:p.Pro3713Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7970,
          "referenceAllele": "C",
          "start": 7969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.7853C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro2618Leu",
        "hgvsWellDefined": "XP_011515434.1:p.Pro2618Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244359",
      "coordinates": [
        {
          "allele": "T",
          "end": 11337,
          "referenceAllele": "C",
          "start": 11336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.11288C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro3763Leu",
        "hgvsWellDefined": "NP_000436.2:p.Pro3763Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244355",
      "coordinates": [
        {
          "allele": "T",
          "end": 11222,
          "referenceAllele": "C",
          "start": 11221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.11165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro3722Leu",
        "hgvsWellDefined": "NP_958780.1:p.Pro3722Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.11165C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.11165C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro3722Leu"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro3722Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA244354",
      "coordinates": [
        {
          "allele": "T",
          "end": 11204,
          "referenceAllele": "C",
          "start": 11203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.11141C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro3714Leu",
        "hgvsWellDefined": "NP_958781.1:p.Pro3714Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244360",
      "coordinates": [
        {
          "allele": "T",
          "end": 11838,
          "referenceAllele": "C",
          "start": 11837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.11618C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro3873Leu",
        "hgvsWellDefined": "NP_958782.1:p.Pro3873Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244353",
      "coordinates": [
        {
          "allele": "T",
          "end": 11218,
          "referenceAllele": "C",
          "start": 11217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.11111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro3704Leu",
        "hgvsWellDefined": "NP_958783.1:p.Pro3704Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244356",
      "coordinates": [
        {
          "allele": "T",
          "end": 11302,
          "referenceAllele": "C",
          "start": 11301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.11207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro3736Leu",
        "hgvsWellDefined": "NP_958784.1:p.Pro3736Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244358",
      "coordinates": [
        {
          "allele": "T",
          "end": 11328,
          "referenceAllele": "C",
          "start": 11327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.11219C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro3740Leu",
        "hgvsWellDefined": "NP_958785.1:p.Pro3740Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA244357",
      "coordinates": [
        {
          "allele": "T",
          "end": 11343,
          "referenceAllele": "C",
          "start": 11342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.11207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro3736Leu",
        "hgvsWellDefined": "NP_958786.1:p.Pro3736Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.11207C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.11207C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro3736Leu"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro3736Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}