{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4926538",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.4786C>T (p.Leu1596=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407330[alleleid]",
        "alleleId": 407330,
        "preferredName": "NM_201384.3(PLEC):c.4786C>T (p.Leu1596=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424084",
        "RCV": [
          "RCV000486500",
          "RCV001392204"
        ],
        "variationId": 424084
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144999311-G-A",
        "id": "8-144999311-G-A",
        "variant": "8:144999311 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144999311G>A?assembly=hg19",
        "id": "chr8:g.144999311G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143925143G>A?assembly=hg38",
        "id": "chr8:g.143925143G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782244301",
        "rs": 782244301
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144999311-G-A?dataset=gnomad_r2_1",
        "id": "8-144999311-G-A",
        "variant": "8:144999311 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143925143-G-A?dataset=gnomad_r3",
        "id": "8-143925143-G-A",
        "variant": "8:143925143 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143925143-G-A?dataset=gnomad_r4",
        "id": "8-143925143-G-A",
        "variant": "8:143925143 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143925143,
          "referenceAllele": "G",
          "start": 143925142
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143925143G>A",
        "CM000670.2:g.143925143G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144999311,
          "referenceAllele": "G",
          "start": 144999310
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144999311G>A",
        "CM000670.1:g.144999311G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145071299,
          "referenceAllele": "G",
          "start": 145071298
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145071299G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56603,
          "referenceAllele": "C",
          "start": 56602
        }
      ],
      "hgvs": [
        "NG_012492.1:g.56603C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4924,
          "referenceAllele": "C",
          "start": 4923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.4918C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Leu1640="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4879,
          "referenceAllele": "C",
          "start": 4878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.4837C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Leu1613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4837,
          "referenceAllele": "C",
          "start": 4836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.4504C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Leu1502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4730,
          "referenceAllele": "C",
          "start": 4729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.4717C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Leu1573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4922,
          "referenceAllele": "C",
          "start": 4921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.4786C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Leu1596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.4786C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.4786C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Leu1596="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Leu1596="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4163,
          "endIntronDirection": "+",
          "endIntronOffset": 1641,
          "referenceAllele": "C",
          "start": 4163,
          "startIntronDirection": "+",
          "startIntronOffset": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4125+1641C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:n.4125+1641C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5367,
          "referenceAllele": "C",
          "start": 5366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.5197C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Leu1733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4915,
          "referenceAllele": "C",
          "start": 4914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.4786C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Leu1596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4854,
          "referenceAllele": "C",
          "start": 4853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.4786C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Leu1596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4869,
          "referenceAllele": "C",
          "start": 4868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.4720C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Leu1574="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4801,
          "referenceAllele": "C",
          "start": 4800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.4744C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Leu1582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.4744C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.4744C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Leu1582="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Leu1582="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4807,
          "referenceAllele": "C",
          "start": 4806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.4798C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Leu1600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4764,
          "referenceAllele": "C",
          "start": 4763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.4690C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Leu1564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4905,
          "referenceAllele": "C",
          "start": 4904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.4867C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Leu1623="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4855,
          "referenceAllele": "C",
          "start": 4854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Leu1619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "endIntronDirection": "+",
          "endIntronOffset": 1641,
          "referenceAllele": "C",
          "start": 134,
          "startIntronDirection": "+",
          "startIntronOffset": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.1:c.134+1641C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173789",
      "coordinates": [
        {
          "allele": "T",
          "end": 4916,
          "referenceAllele": "C",
          "start": 4915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.4867C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Leu1623="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830477205",
      "coordinates": [
        {
          "allele": "T",
          "end": 4801,
          "referenceAllele": "C",
          "start": 4800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.4744C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Leu1582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830484245",
      "coordinates": [
        {
          "allele": "T",
          "end": 4869,
          "referenceAllele": "C",
          "start": 4868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.4720C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Leu1574="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488706",
      "coordinates": [
        {
          "allele": "T",
          "end": 5367,
          "referenceAllele": "C",
          "start": 5366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.5197C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Leu1733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830491259",
      "coordinates": [
        {
          "allele": "T",
          "end": 4764,
          "referenceAllele": "C",
          "start": 4763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.4690C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Leu1564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495895",
      "coordinates": [
        {
          "allele": "T",
          "end": 4854,
          "referenceAllele": "C",
          "start": 4853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.4786C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Leu1596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500506",
      "coordinates": [
        {
          "allele": "T",
          "end": 4807,
          "referenceAllele": "C",
          "start": 4806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.4798C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Leu1600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830505140",
      "coordinates": [
        {
          "allele": "T",
          "end": 4915,
          "referenceAllele": "C",
          "start": 4914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.4786C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Leu1596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5315,
          "referenceAllele": "C",
          "start": 5314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.5212C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Leu1738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4915,
          "referenceAllele": "C",
          "start": 4914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.4813C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Leu1605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4858,
          "referenceAllele": "C",
          "start": 4857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.4801C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Leu1601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4948,
          "referenceAllele": "C",
          "start": 4947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.4801C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Leu1601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4801,
          "referenceAllele": "C",
          "start": 4800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.4759C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Leu1587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4800,
          "referenceAllele": "C",
          "start": 4799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.4735C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Leu1579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4732,
          "referenceAllele": "C",
          "start": 4731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.4717C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Leu1573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4791,
          "referenceAllele": "C",
          "start": 4790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.4705C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Leu1569="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4978,
          "referenceAllele": "C",
          "start": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.4882C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Leu1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4747,
          "referenceAllele": "C",
          "start": 4746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.4732C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Leu1578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4747,
          "referenceAllele": "C",
          "start": 4746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.4732C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Leu1578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4903,
          "referenceAllele": "C",
          "start": 4902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.4801C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Leu1601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4732,
          "referenceAllele": "C",
          "start": 4731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.4717C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Leu1573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4166,
          "endIntronDirection": "+",
          "endIntronOffset": 1641,
          "referenceAllele": "C",
          "start": 4166,
          "startIntronDirection": "+",
          "startIntronOffset": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4071+1641C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4071+1641C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5408,
          "referenceAllele": "C",
          "start": 5407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.5212C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Leu1738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4934,
          "referenceAllele": "C",
          "start": 4933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.4813C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Leu1605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4893,
          "referenceAllele": "C",
          "start": 4892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.4801C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Leu1601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4978,
          "referenceAllele": "C",
          "start": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.4801C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Leu1601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4815,
          "referenceAllele": "C",
          "start": 4814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.4759C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Leu1587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4804,
          "referenceAllele": "C",
          "start": 4803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.4735C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Leu1579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6212,
          "referenceAllele": "C",
          "start": 6211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.4705C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Leu1569="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4986,
          "referenceAllele": "C",
          "start": 4985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.4882C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Leu1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4857,
          "referenceAllele": "C",
          "start": 4856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.4732C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Leu1578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4922,
          "referenceAllele": "C",
          "start": 4921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.4801C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Leu1601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4841,
          "referenceAllele": "C",
          "start": 4840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.4717C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Leu1573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4188,
          "endIntronDirection": "+",
          "endIntronOffset": 1641,
          "referenceAllele": "C",
          "start": 4188,
          "startIntronDirection": "+",
          "startIntronOffset": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4071+1641C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4071+1641C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173789",
      "coordinates": [
        {
          "allele": "T",
          "end": 4916,
          "referenceAllele": "C",
          "start": 4915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.4867C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Leu1623="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830477205",
      "coordinates": [
        {
          "allele": "T",
          "end": 4801,
          "referenceAllele": "C",
          "start": 4800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.4744C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Leu1582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.4744C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.4744C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Leu1582="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Leu1582="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830484245",
      "coordinates": [
        {
          "allele": "T",
          "end": 4783,
          "referenceAllele": "C",
          "start": 4782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.4720C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Leu1574="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488706",
      "coordinates": [
        {
          "allele": "T",
          "end": 5417,
          "referenceAllele": "C",
          "start": 5416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.5197C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Leu1733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830491259",
      "coordinates": [
        {
          "allele": "T",
          "end": 4797,
          "referenceAllele": "C",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.4690C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Leu1564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495895",
      "coordinates": [
        {
          "allele": "T",
          "end": 4881,
          "referenceAllele": "C",
          "start": 4880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.4786C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Leu1596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500506",
      "coordinates": [
        {
          "allele": "T",
          "end": 4907,
          "referenceAllele": "C",
          "start": 4906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.4798C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Leu1600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830505140",
      "coordinates": [
        {
          "allele": "T",
          "end": 4922,
          "referenceAllele": "C",
          "start": 4921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.4786C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Leu1596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.4786C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.4786C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Leu1596="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Leu1596="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}