{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4924583",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.10637C>T (p.Ala3546Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=955310[alleleid]",
        "alleleId": 955310,
        "preferredName": "NM_201384.3(PLEC):c.10637C>T (p.Ala3546Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/967260",
        "RCV": [
          "RCV001242129",
          "RCV003132334",
          "RCV003166512"
        ],
        "variationId": 967260
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144993352-G-A",
        "id": "8-144993352-G-A",
        "variant": "8:144993352 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144993352G>A?assembly=hg19",
        "id": "chr8:g.144993352G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143919184G>A?assembly=hg38",
        "id": "chr8:g.143919184G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/533151885",
        "rs": 533151885
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144993352-G-A?dataset=gnomad_r2_1",
        "id": "8-144993352-G-A",
        "variant": "8:144993352 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919184-G-A?dataset=gnomad_r3",
        "id": "8-143919184-G-A",
        "variant": "8:143919184 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919184-G-A?dataset=gnomad_r4",
        "id": "8-143919184-G-A",
        "variant": "8:143919184 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143919184,
          "referenceAllele": "G",
          "start": 143919183
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143919184G>A",
        "CM000670.2:g.143919184G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144993352,
          "referenceAllele": "G",
          "start": 144993351
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144993352G>A",
        "CM000670.1:g.144993352G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145065340,
          "referenceAllele": "G",
          "start": 145065339
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145065340G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62562,
          "referenceAllele": "C",
          "start": 62561
        }
      ],
      "hgvs": [
        "NG_012492.1:g.62562C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10775,
          "referenceAllele": "C",
          "start": 10774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.10769C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Ala3590Val",
        "hgvsWellDefined": "ENSP00000437303.2:p.Ala3590Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10730,
          "referenceAllele": "C",
          "start": 10729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.10688C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Ala3563Val",
        "hgvsWellDefined": "ENSP00000510528.1:p.Ala3563Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10688,
          "referenceAllele": "C",
          "start": 10687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.10355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Ala3452Val",
        "hgvsWellDefined": "ENSP00000510788.1:p.Ala3452Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10581,
          "referenceAllele": "C",
          "start": 10580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.10568C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Ala3523Val",
        "hgvsWellDefined": "ENSP00000510329.1:p.Ala3523Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10773,
          "referenceAllele": "C",
          "start": 10772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.10637C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala3546Val",
        "hgvsWellDefined": "ENSP00000344848.3:p.Ala3546Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.10637C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.10637C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala3546Val"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala3546Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7375,
          "referenceAllele": "C",
          "start": 7374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.7337C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Ala2446Val",
        "hgvsWellDefined": "ENSP00000433982.2:p.Ala2446Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11218,
          "referenceAllele": "C",
          "start": 11217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.11048C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Ala3683Val",
        "hgvsWellDefined": "ENSP00000323856.4:p.Ala3683Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10766,
          "referenceAllele": "C",
          "start": 10765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.10637C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala3546Val",
        "hgvsWellDefined": "ENSP00000344848.3:p.Ala3546Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10705,
          "referenceAllele": "C",
          "start": 10704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.10637C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Ala3546Val",
        "hgvsWellDefined": "ENSP00000346602.3:p.Ala3546Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10720,
          "referenceAllele": "C",
          "start": 10719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.10571C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Ala3524Val",
        "hgvsWellDefined": "ENSP00000347044.2:p.Ala3524Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10652,
          "referenceAllele": "C",
          "start": 10651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.10595C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Ala3532Val",
        "hgvsWellDefined": "ENSP00000348702.3:p.Ala3532Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.10595C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.10595C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala3532Val"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala3532Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10658,
          "referenceAllele": "C",
          "start": 10657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.10649C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Ala3550Val",
        "hgvsWellDefined": "ENSP00000350277.2:p.Ala3550Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10615,
          "referenceAllele": "C",
          "start": 10614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.10541C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Ala3514Val",
        "hgvsWellDefined": "ENSP00000381756.2:p.Ala3514Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10756,
          "referenceAllele": "C",
          "start": 10755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.10718C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Ala3573Val",
        "hgvsWellDefined": "ENSP00000388180.2:p.Ala3573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10706,
          "referenceAllele": "C",
          "start": 10705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.10706C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Ala3569Val",
        "hgvsWellDefined": "ENSP00000434583.1:p.Ala3569Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176019",
      "coordinates": [
        {
          "allele": "T",
          "end": 10767,
          "referenceAllele": "C",
          "start": 10766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.10718C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala3573Val",
        "hgvsWellDefined": "NP_000436.2:p.Ala3573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480643",
      "coordinates": [
        {
          "allele": "T",
          "end": 10652,
          "referenceAllele": "C",
          "start": 10651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.10595C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala3532Val",
        "hgvsWellDefined": "NP_958780.1:p.Ala3532Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487099",
      "coordinates": [
        {
          "allele": "T",
          "end": 10720,
          "referenceAllele": "C",
          "start": 10719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.10571C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala3524Val",
        "hgvsWellDefined": "NP_958781.1:p.Ala3524Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139764808",
      "coordinates": [
        {
          "allele": "T",
          "end": 11218,
          "referenceAllele": "C",
          "start": 11217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.11048C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala3683Val",
        "hgvsWellDefined": "NP_958782.1:p.Ala3683Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493488",
      "coordinates": [
        {
          "allele": "T",
          "end": 10615,
          "referenceAllele": "C",
          "start": 10614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.10541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala3514Val",
        "hgvsWellDefined": "NP_958783.1:p.Ala3514Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498125",
      "coordinates": [
        {
          "allele": "T",
          "end": 10705,
          "referenceAllele": "C",
          "start": 10704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.10637C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala3546Val",
        "hgvsWellDefined": "NP_958784.1:p.Ala3546Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502734",
      "coordinates": [
        {
          "allele": "T",
          "end": 10658,
          "referenceAllele": "C",
          "start": 10657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.10649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala3550Val",
        "hgvsWellDefined": "NP_958785.1:p.Ala3550Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507368",
      "coordinates": [
        {
          "allele": "T",
          "end": 10766,
          "referenceAllele": "C",
          "start": 10765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.10637C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala3546Val",
        "hgvsWellDefined": "NP_958786.1:p.Ala3546Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11166,
          "referenceAllele": "C",
          "start": 11165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.11063C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala3688Val",
        "hgvsWellDefined": "XP_005251033.1:p.Ala3688Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10766,
          "referenceAllele": "C",
          "start": 10765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.10664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala3555Val",
        "hgvsWellDefined": "XP_005251035.1:p.Ala3555Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10709,
          "referenceAllele": "C",
          "start": 10708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.10652C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala3551Val",
        "hgvsWellDefined": "XP_005251036.1:p.Ala3551Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10799,
          "referenceAllele": "C",
          "start": 10798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.10652C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala3551Val",
        "hgvsWellDefined": "XP_005251037.1:p.Ala3551Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10652,
          "referenceAllele": "C",
          "start": 10651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.10610C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala3537Val",
        "hgvsWellDefined": "XP_005251038.1:p.Ala3537Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10651,
          "referenceAllele": "C",
          "start": 10650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.10586C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala3529Val",
        "hgvsWellDefined": "XP_005251039.1:p.Ala3529Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10583,
          "referenceAllele": "C",
          "start": 10582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.10568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Ala3523Val",
        "hgvsWellDefined": "XP_005251040.1:p.Ala3523Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10642,
          "referenceAllele": "C",
          "start": 10641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.10556C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala3519Val",
        "hgvsWellDefined": "XP_005251041.1:p.Ala3519Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10829,
          "referenceAllele": "C",
          "start": 10828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.10733C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala3578Val",
        "hgvsWellDefined": "XP_006716651.1:p.Ala3578Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10598,
          "referenceAllele": "C",
          "start": 10597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.10583C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Ala3528Val",
        "hgvsWellDefined": "XP_006716652.1:p.Ala3528Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10598,
          "referenceAllele": "C",
          "start": 10597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.10583C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala3528Val",
        "hgvsWellDefined": "XP_006716653.1:p.Ala3528Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10754,
          "referenceAllele": "C",
          "start": 10753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.10652C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala3551Val",
        "hgvsWellDefined": "XP_011515432.1:p.Ala3551Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10583,
          "referenceAllele": "C",
          "start": 10582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.10568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala3523Val",
        "hgvsWellDefined": "XP_011515433.1:p.Ala3523Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7378,
          "referenceAllele": "C",
          "start": 7377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.7283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala2428Val",
        "hgvsWellDefined": "XP_011515434.1:p.Ala2428Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11259,
          "referenceAllele": "C",
          "start": 11258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.11063C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala3688Val",
        "hgvsWellDefined": "XP_005251033.1:p.Ala3688Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10785,
          "referenceAllele": "C",
          "start": 10784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.10664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala3555Val",
        "hgvsWellDefined": "XP_005251035.1:p.Ala3555Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10744,
          "referenceAllele": "C",
          "start": 10743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.10652C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala3551Val",
        "hgvsWellDefined": "XP_005251036.1:p.Ala3551Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10829,
          "referenceAllele": "C",
          "start": 10828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.10652C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala3551Val",
        "hgvsWellDefined": "XP_005251037.1:p.Ala3551Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10666,
          "referenceAllele": "C",
          "start": 10665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.10610C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala3537Val",
        "hgvsWellDefined": "XP_005251038.1:p.Ala3537Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10655,
          "referenceAllele": "C",
          "start": 10654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.10586C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala3529Val",
        "hgvsWellDefined": "XP_005251039.1:p.Ala3529Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12063,
          "referenceAllele": "C",
          "start": 12062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.10556C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala3519Val",
        "hgvsWellDefined": "XP_005251041.1:p.Ala3519Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10837,
          "referenceAllele": "C",
          "start": 10836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.10733C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala3578Val",
        "hgvsWellDefined": "XP_006716651.1:p.Ala3578Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10708,
          "referenceAllele": "C",
          "start": 10707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.10583C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala3528Val",
        "hgvsWellDefined": "XP_006716653.1:p.Ala3528Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10773,
          "referenceAllele": "C",
          "start": 10772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.10652C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala3551Val",
        "hgvsWellDefined": "XP_011515432.1:p.Ala3551Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10692,
          "referenceAllele": "C",
          "start": 10691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.10568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala3523Val",
        "hgvsWellDefined": "XP_011515433.1:p.Ala3523Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7400,
          "referenceAllele": "C",
          "start": 7399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.7283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala2428Val",
        "hgvsWellDefined": "XP_011515434.1:p.Ala2428Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176019",
      "coordinates": [
        {
          "allele": "T",
          "end": 10767,
          "referenceAllele": "C",
          "start": 10766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.10718C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala3573Val",
        "hgvsWellDefined": "NP_000436.2:p.Ala3573Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480643",
      "coordinates": [
        {
          "allele": "T",
          "end": 10652,
          "referenceAllele": "C",
          "start": 10651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.10595C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala3532Val",
        "hgvsWellDefined": "NP_958780.1:p.Ala3532Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.10595C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.10595C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala3532Val"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala3532Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487099",
      "coordinates": [
        {
          "allele": "T",
          "end": 10634,
          "referenceAllele": "C",
          "start": 10633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.10571C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala3524Val",
        "hgvsWellDefined": "NP_958781.1:p.Ala3524Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139764808",
      "coordinates": [
        {
          "allele": "T",
          "end": 11268,
          "referenceAllele": "C",
          "start": 11267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.11048C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala3683Val",
        "hgvsWellDefined": "NP_958782.1:p.Ala3683Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493488",
      "coordinates": [
        {
          "allele": "T",
          "end": 10648,
          "referenceAllele": "C",
          "start": 10647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.10541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala3514Val",
        "hgvsWellDefined": "NP_958783.1:p.Ala3514Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498125",
      "coordinates": [
        {
          "allele": "T",
          "end": 10732,
          "referenceAllele": "C",
          "start": 10731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.10637C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala3546Val",
        "hgvsWellDefined": "NP_958784.1:p.Ala3546Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502734",
      "coordinates": [
        {
          "allele": "T",
          "end": 10758,
          "referenceAllele": "C",
          "start": 10757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.10649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala3550Val",
        "hgvsWellDefined": "NP_958785.1:p.Ala3550Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507368",
      "coordinates": [
        {
          "allele": "T",
          "end": 10773,
          "referenceAllele": "C",
          "start": 10772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.10637C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala3546Val",
        "hgvsWellDefined": "NP_958786.1:p.Ala3546Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.10637C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.10637C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala3546Val"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala3546Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}