{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4924979",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488437[alleleid]",
        "alleleId": 488437,
        "preferredName": "NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/497013",
        "RCV": [
          "RCV000593219",
          "RCV000764748",
          "RCV001241498"
        ],
        "variationId": 497013
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144994583-C-T",
        "id": "8-144994583-C-T",
        "variant": "8:144994583 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144994583C>T?assembly=hg19",
        "id": "chr8:g.144994583C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143920415C>T?assembly=hg38",
        "id": "chr8:g.143920415C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200680102",
        "rs": 200680102
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144994583-C-T?dataset=gnomad_r2_1",
        "id": "8-144994583-C-T",
        "variant": "8:144994583 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143920415-C-T?dataset=gnomad_r3",
        "id": "8-143920415-C-T",
        "variant": "8:143920415 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143920415-C-T?dataset=gnomad_r4",
        "id": "8-143920415-C-T",
        "variant": "8:143920415 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143920415,
          "referenceAllele": "C",
          "start": 143920414
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143920415C>T",
        "CM000670.2:g.143920415C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144994583,
          "referenceAllele": "C",
          "start": 144994582
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144994583C>T",
        "CM000670.1:g.144994583C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145066571,
          "referenceAllele": "C",
          "start": 145066570
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145066571C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61331,
          "referenceAllele": "G",
          "start": 61330
        }
      ],
      "hgvs": [
        "NG_012492.1:g.61331G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9544,
          "referenceAllele": "G",
          "start": 9543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.9538G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Ala3180Thr",
        "hgvsWellDefined": "ENSP00000437303.2:p.Ala3180Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9499,
          "referenceAllele": "G",
          "start": 9498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.9457G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Ala3153Thr",
        "hgvsWellDefined": "ENSP00000510528.1:p.Ala3153Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9457,
          "referenceAllele": "G",
          "start": 9456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.9124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Ala3042Thr",
        "hgvsWellDefined": "ENSP00000510788.1:p.Ala3042Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9350,
          "referenceAllele": "G",
          "start": 9349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.9337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Ala3113Thr",
        "hgvsWellDefined": "ENSP00000510329.1:p.Ala3113Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9542,
          "referenceAllele": "G",
          "start": 9541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.9406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala3136Thr",
        "hgvsWellDefined": "ENSP00000344848.3:p.Ala3136Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9406G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9406G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala3136Thr"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala3136Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6144,
          "referenceAllele": "G",
          "start": 6143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.6106G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Ala2036Thr",
        "hgvsWellDefined": "ENSP00000433982.2:p.Ala2036Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9987,
          "referenceAllele": "G",
          "start": 9986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.9817G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Ala3273Thr",
        "hgvsWellDefined": "ENSP00000323856.4:p.Ala3273Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.9406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala3136Thr",
        "hgvsWellDefined": "ENSP00000344848.3:p.Ala3136Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9474,
          "referenceAllele": "G",
          "start": 9473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.9406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Ala3136Thr",
        "hgvsWellDefined": "ENSP00000346602.3:p.Ala3136Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9489,
          "referenceAllele": "G",
          "start": 9488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.9340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Ala3114Thr",
        "hgvsWellDefined": "ENSP00000347044.2:p.Ala3114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9421,
          "referenceAllele": "G",
          "start": 9420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.9364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Ala3122Thr",
        "hgvsWellDefined": "ENSP00000348702.3:p.Ala3122Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9364G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9364G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala3122Thr"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala3122Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9427,
          "referenceAllele": "G",
          "start": 9426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.9418G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Ala3140Thr",
        "hgvsWellDefined": "ENSP00000350277.2:p.Ala3140Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9384,
          "referenceAllele": "G",
          "start": 9383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.9310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Ala3104Thr",
        "hgvsWellDefined": "ENSP00000381756.2:p.Ala3104Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9525,
          "referenceAllele": "G",
          "start": 9524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.9487G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Ala3163Thr",
        "hgvsWellDefined": "ENSP00000388180.2:p.Ala3163Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9475,
          "referenceAllele": "G",
          "start": 9474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.9475G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Ala3159Thr",
        "hgvsWellDefined": "ENSP00000434583.1:p.Ala3159Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175567",
      "coordinates": [
        {
          "allele": "A",
          "end": 9536,
          "referenceAllele": "G",
          "start": 9535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.9487G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala3163Thr",
        "hgvsWellDefined": "NP_000436.2:p.Ala3163Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480027",
      "coordinates": [
        {
          "allele": "A",
          "end": 9421,
          "referenceAllele": "G",
          "start": 9420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.9364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala3122Thr",
        "hgvsWellDefined": "NP_958780.1:p.Ala3122Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486647",
      "coordinates": [
        {
          "allele": "A",
          "end": 9489,
          "referenceAllele": "G",
          "start": 9488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.9340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala3114Thr",
        "hgvsWellDefined": "NP_958781.1:p.Ala3114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812140",
      "coordinates": [
        {
          "allele": "A",
          "end": 9987,
          "referenceAllele": "G",
          "start": 9986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.9817G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala3273Thr",
        "hgvsWellDefined": "NP_958782.1:p.Ala3273Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493037",
      "coordinates": [
        {
          "allele": "A",
          "end": 9384,
          "referenceAllele": "G",
          "start": 9383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.9310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala3104Thr",
        "hgvsWellDefined": "NP_958783.1:p.Ala3104Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497673",
      "coordinates": [
        {
          "allele": "A",
          "end": 9474,
          "referenceAllele": "G",
          "start": 9473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.9406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala3136Thr",
        "hgvsWellDefined": "NP_958784.1:p.Ala3136Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502284",
      "coordinates": [
        {
          "allele": "A",
          "end": 9427,
          "referenceAllele": "G",
          "start": 9426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.9418G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala3140Thr",
        "hgvsWellDefined": "NP_958785.1:p.Ala3140Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506918",
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.9406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala3136Thr",
        "hgvsWellDefined": "NP_958786.1:p.Ala3136Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9935,
          "referenceAllele": "G",
          "start": 9934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.9832G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala3278Thr",
        "hgvsWellDefined": "XP_005251033.1:p.Ala3278Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.9433G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala3145Thr",
        "hgvsWellDefined": "XP_005251035.1:p.Ala3145Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9478,
          "referenceAllele": "G",
          "start": 9477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.9421G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala3141Thr",
        "hgvsWellDefined": "XP_005251036.1:p.Ala3141Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9568,
          "referenceAllele": "G",
          "start": 9567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.9421G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala3141Thr",
        "hgvsWellDefined": "XP_005251037.1:p.Ala3141Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9421,
          "referenceAllele": "G",
          "start": 9420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.9379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala3127Thr",
        "hgvsWellDefined": "XP_005251038.1:p.Ala3127Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9420,
          "referenceAllele": "G",
          "start": 9419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.9355G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala3119Thr",
        "hgvsWellDefined": "XP_005251039.1:p.Ala3119Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9352,
          "referenceAllele": "G",
          "start": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.9337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Ala3113Thr",
        "hgvsWellDefined": "XP_005251040.1:p.Ala3113Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9411,
          "referenceAllele": "G",
          "start": 9410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.9325G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala3109Thr",
        "hgvsWellDefined": "XP_005251041.1:p.Ala3109Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9598,
          "referenceAllele": "G",
          "start": 9597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.9502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala3168Thr",
        "hgvsWellDefined": "XP_006716651.1:p.Ala3168Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9367,
          "referenceAllele": "G",
          "start": 9366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Ala3118Thr",
        "hgvsWellDefined": "XP_006716652.1:p.Ala3118Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9367,
          "referenceAllele": "G",
          "start": 9366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala3118Thr",
        "hgvsWellDefined": "XP_006716653.1:p.Ala3118Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9523,
          "referenceAllele": "G",
          "start": 9522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.9421G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala3141Thr",
        "hgvsWellDefined": "XP_011515432.1:p.Ala3141Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9352,
          "referenceAllele": "G",
          "start": 9351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.9337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala3113Thr",
        "hgvsWellDefined": "XP_011515433.1:p.Ala3113Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6147,
          "referenceAllele": "G",
          "start": 6146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.6052G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala2018Thr",
        "hgvsWellDefined": "XP_011515434.1:p.Ala2018Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10028,
          "referenceAllele": "G",
          "start": 10027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.9832G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala3278Thr",
        "hgvsWellDefined": "XP_005251033.1:p.Ala3278Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9554,
          "referenceAllele": "G",
          "start": 9553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.9433G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala3145Thr",
        "hgvsWellDefined": "XP_005251035.1:p.Ala3145Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9513,
          "referenceAllele": "G",
          "start": 9512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.9421G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala3141Thr",
        "hgvsWellDefined": "XP_005251036.1:p.Ala3141Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9598,
          "referenceAllele": "G",
          "start": 9597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.9421G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala3141Thr",
        "hgvsWellDefined": "XP_005251037.1:p.Ala3141Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9435,
          "referenceAllele": "G",
          "start": 9434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.9379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala3127Thr",
        "hgvsWellDefined": "XP_005251038.1:p.Ala3127Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9424,
          "referenceAllele": "G",
          "start": 9423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.9355G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala3119Thr",
        "hgvsWellDefined": "XP_005251039.1:p.Ala3119Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10832,
          "referenceAllele": "G",
          "start": 10831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.9325G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala3109Thr",
        "hgvsWellDefined": "XP_005251041.1:p.Ala3109Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9606,
          "referenceAllele": "G",
          "start": 9605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.9502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala3168Thr",
        "hgvsWellDefined": "XP_006716651.1:p.Ala3168Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9477,
          "referenceAllele": "G",
          "start": 9476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.9352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala3118Thr",
        "hgvsWellDefined": "XP_006716653.1:p.Ala3118Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9542,
          "referenceAllele": "G",
          "start": 9541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.9421G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala3141Thr",
        "hgvsWellDefined": "XP_011515432.1:p.Ala3141Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9461,
          "referenceAllele": "G",
          "start": 9460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.9337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala3113Thr",
        "hgvsWellDefined": "XP_011515433.1:p.Ala3113Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6169,
          "referenceAllele": "G",
          "start": 6168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.6052G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala2018Thr",
        "hgvsWellDefined": "XP_011515434.1:p.Ala2018Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175567",
      "coordinates": [
        {
          "allele": "A",
          "end": 9536,
          "referenceAllele": "G",
          "start": 9535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.9487G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala3163Thr",
        "hgvsWellDefined": "NP_000436.2:p.Ala3163Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480027",
      "coordinates": [
        {
          "allele": "A",
          "end": 9421,
          "referenceAllele": "G",
          "start": 9420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.9364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala3122Thr",
        "hgvsWellDefined": "NP_958780.1:p.Ala3122Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9364G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9364G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala3122Thr"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala3122Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486647",
      "coordinates": [
        {
          "allele": "A",
          "end": 9403,
          "referenceAllele": "G",
          "start": 9402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.9340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala3114Thr",
        "hgvsWellDefined": "NP_958781.1:p.Ala3114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812140",
      "coordinates": [
        {
          "allele": "A",
          "end": 10037,
          "referenceAllele": "G",
          "start": 10036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.9817G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala3273Thr",
        "hgvsWellDefined": "NP_958782.1:p.Ala3273Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493037",
      "coordinates": [
        {
          "allele": "A",
          "end": 9417,
          "referenceAllele": "G",
          "start": 9416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.9310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala3104Thr",
        "hgvsWellDefined": "NP_958783.1:p.Ala3104Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497673",
      "coordinates": [
        {
          "allele": "A",
          "end": 9501,
          "referenceAllele": "G",
          "start": 9500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.9406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala3136Thr",
        "hgvsWellDefined": "NP_958784.1:p.Ala3136Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502284",
      "coordinates": [
        {
          "allele": "A",
          "end": 9527,
          "referenceAllele": "G",
          "start": 9526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.9418G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala3140Thr",
        "hgvsWellDefined": "NP_958785.1:p.Ala3140Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506918",
      "coordinates": [
        {
          "allele": "A",
          "end": 9542,
          "referenceAllele": "G",
          "start": 9541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.9406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala3136Thr",
        "hgvsWellDefined": "NP_958786.1:p.Ala3136Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9406G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9406G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala3136Thr"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala3136Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}