{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4925004",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.9317G>A (p.Arg3106Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=992570[alleleid]",
        "alleleId": 992570,
        "preferredName": "NM_201384.3(PLEC):c.9317G>A (p.Arg3106Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1004138",
        "RCV": [
          "RCV001300795"
        ],
        "variationId": 1004138
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144994672-C-T",
        "id": "8-144994672-C-T",
        "variant": "8:144994672 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144994672C>T?assembly=hg19",
        "id": "chr8:g.144994672C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143920504C>T?assembly=hg38",
        "id": "chr8:g.143920504C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374190410",
        "rs": 374190410
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144994672-C-T?dataset=gnomad_r2_1",
        "id": "8-144994672-C-T",
        "variant": "8:144994672 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143920504-C-T?dataset=gnomad_r3",
        "id": "8-143920504-C-T",
        "variant": "8:143920504 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143920504-C-T?dataset=gnomad_r4",
        "id": "8-143920504-C-T",
        "variant": "8:143920504 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143920504,
          "referenceAllele": "C",
          "start": 143920503
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143920504C>T",
        "CM000670.2:g.143920504C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144994672,
          "referenceAllele": "C",
          "start": 144994671
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144994672C>T",
        "CM000670.1:g.144994672C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145066660,
          "referenceAllele": "C",
          "start": 145066659
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145066660C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61242,
          "referenceAllele": "G",
          "start": 61241
        }
      ],
      "hgvs": [
        "NG_012492.1:g.61242G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9455,
          "referenceAllele": "G",
          "start": 9454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.9449G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Arg3150Lys",
        "hgvsWellDefined": "ENSP00000437303.2:p.Arg3150Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9410,
          "referenceAllele": "G",
          "start": 9409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.9368G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Arg3123Lys",
        "hgvsWellDefined": "ENSP00000510528.1:p.Arg3123Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9368,
          "referenceAllele": "G",
          "start": 9367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.9035G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Arg3012Lys",
        "hgvsWellDefined": "ENSP00000510788.1:p.Arg3012Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9261,
          "referenceAllele": "G",
          "start": 9260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.9248G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Arg3083Lys",
        "hgvsWellDefined": "ENSP00000510329.1:p.Arg3083Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9453,
          "referenceAllele": "G",
          "start": 9452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.9317G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg3106Lys",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg3106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9317G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9317G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg3106Lys"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg3106Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6055,
          "referenceAllele": "G",
          "start": 6054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.6017G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Arg2006Lys",
        "hgvsWellDefined": "ENSP00000433982.2:p.Arg2006Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9898,
          "referenceAllele": "G",
          "start": 9897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.9728G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Arg3243Lys",
        "hgvsWellDefined": "ENSP00000323856.4:p.Arg3243Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9446,
          "referenceAllele": "G",
          "start": 9445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.9317G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg3106Lys",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg3106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9385,
          "referenceAllele": "G",
          "start": 9384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.9317G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Arg3106Lys",
        "hgvsWellDefined": "ENSP00000346602.3:p.Arg3106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9400,
          "referenceAllele": "G",
          "start": 9399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.9251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Arg3084Lys",
        "hgvsWellDefined": "ENSP00000347044.2:p.Arg3084Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9332,
          "referenceAllele": "G",
          "start": 9331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.9275G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Arg3092Lys",
        "hgvsWellDefined": "ENSP00000348702.3:p.Arg3092Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9275G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9275G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg3092Lys"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg3092Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9338,
          "referenceAllele": "G",
          "start": 9337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.9329G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Arg3110Lys",
        "hgvsWellDefined": "ENSP00000350277.2:p.Arg3110Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9295,
          "referenceAllele": "G",
          "start": 9294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.9221G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Arg3074Lys",
        "hgvsWellDefined": "ENSP00000381756.2:p.Arg3074Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9436,
          "referenceAllele": "G",
          "start": 9435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.9398G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Arg3133Lys",
        "hgvsWellDefined": "ENSP00000388180.2:p.Arg3133Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9386,
          "referenceAllele": "G",
          "start": 9385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.9386G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Arg3129Lys",
        "hgvsWellDefined": "ENSP00000434583.1:p.Arg3129Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175526",
      "coordinates": [
        {
          "allele": "A",
          "end": 9447,
          "referenceAllele": "G",
          "start": 9446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.9398G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg3133Lys",
        "hgvsWellDefined": "NP_000436.2:p.Arg3133Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479982",
      "coordinates": [
        {
          "allele": "A",
          "end": 9332,
          "referenceAllele": "G",
          "start": 9331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.9275G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg3092Lys",
        "hgvsWellDefined": "NP_958780.1:p.Arg3092Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486608",
      "coordinates": [
        {
          "allele": "A",
          "end": 9400,
          "referenceAllele": "G",
          "start": 9399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.9251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg3084Lys",
        "hgvsWellDefined": "NP_958781.1:p.Arg3084Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499304903",
      "coordinates": [
        {
          "allele": "A",
          "end": 9898,
          "referenceAllele": "G",
          "start": 9897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.9728G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg3243Lys",
        "hgvsWellDefined": "NP_958782.1:p.Arg3243Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492996",
      "coordinates": [
        {
          "allele": "A",
          "end": 9295,
          "referenceAllele": "G",
          "start": 9294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.9221G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg3074Lys",
        "hgvsWellDefined": "NP_958783.1:p.Arg3074Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497634",
      "coordinates": [
        {
          "allele": "A",
          "end": 9385,
          "referenceAllele": "G",
          "start": 9384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.9317G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg3106Lys",
        "hgvsWellDefined": "NP_958784.1:p.Arg3106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502245",
      "coordinates": [
        {
          "allele": "A",
          "end": 9338,
          "referenceAllele": "G",
          "start": 9337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.9329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg3110Lys",
        "hgvsWellDefined": "NP_958785.1:p.Arg3110Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506878",
      "coordinates": [
        {
          "allele": "A",
          "end": 9446,
          "referenceAllele": "G",
          "start": 9445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.9317G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg3106Lys",
        "hgvsWellDefined": "NP_958786.1:p.Arg3106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9846,
          "referenceAllele": "G",
          "start": 9845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.9743G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg3248Lys",
        "hgvsWellDefined": "XP_005251033.1:p.Arg3248Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9446,
          "referenceAllele": "G",
          "start": 9445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.9344G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg3115Lys",
        "hgvsWellDefined": "XP_005251035.1:p.Arg3115Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9389,
          "referenceAllele": "G",
          "start": 9388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.9332G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg3111Lys",
        "hgvsWellDefined": "XP_005251036.1:p.Arg3111Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9479,
          "referenceAllele": "G",
          "start": 9478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.9332G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg3111Lys",
        "hgvsWellDefined": "XP_005251037.1:p.Arg3111Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9332,
          "referenceAllele": "G",
          "start": 9331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.9290G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg3097Lys",
        "hgvsWellDefined": "XP_005251038.1:p.Arg3097Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9331,
          "referenceAllele": "G",
          "start": 9330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.9266G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg3089Lys",
        "hgvsWellDefined": "XP_005251039.1:p.Arg3089Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9263,
          "referenceAllele": "G",
          "start": 9262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.9248G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Arg3083Lys",
        "hgvsWellDefined": "XP_005251040.1:p.Arg3083Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9322,
          "referenceAllele": "G",
          "start": 9321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.9236G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg3079Lys",
        "hgvsWellDefined": "XP_005251041.1:p.Arg3079Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9509,
          "referenceAllele": "G",
          "start": 9508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.9413G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg3138Lys",
        "hgvsWellDefined": "XP_006716651.1:p.Arg3138Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9278,
          "referenceAllele": "G",
          "start": 9277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.9263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Arg3088Lys",
        "hgvsWellDefined": "XP_006716652.1:p.Arg3088Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9278,
          "referenceAllele": "G",
          "start": 9277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.9263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg3088Lys",
        "hgvsWellDefined": "XP_006716653.1:p.Arg3088Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9434,
          "referenceAllele": "G",
          "start": 9433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.9332G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg3111Lys",
        "hgvsWellDefined": "XP_011515432.1:p.Arg3111Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9263,
          "referenceAllele": "G",
          "start": 9262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.9248G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg3083Lys",
        "hgvsWellDefined": "XP_011515433.1:p.Arg3083Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6058,
          "referenceAllele": "G",
          "start": 6057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.5963G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg1988Lys",
        "hgvsWellDefined": "XP_011515434.1:p.Arg1988Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9939,
          "referenceAllele": "G",
          "start": 9938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.9743G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg3248Lys",
        "hgvsWellDefined": "XP_005251033.1:p.Arg3248Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9465,
          "referenceAllele": "G",
          "start": 9464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.9344G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg3115Lys",
        "hgvsWellDefined": "XP_005251035.1:p.Arg3115Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9424,
          "referenceAllele": "G",
          "start": 9423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.9332G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg3111Lys",
        "hgvsWellDefined": "XP_005251036.1:p.Arg3111Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9509,
          "referenceAllele": "G",
          "start": 9508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.9332G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg3111Lys",
        "hgvsWellDefined": "XP_005251037.1:p.Arg3111Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9346,
          "referenceAllele": "G",
          "start": 9345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.9290G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg3097Lys",
        "hgvsWellDefined": "XP_005251038.1:p.Arg3097Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9335,
          "referenceAllele": "G",
          "start": 9334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.9266G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg3089Lys",
        "hgvsWellDefined": "XP_005251039.1:p.Arg3089Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10743,
          "referenceAllele": "G",
          "start": 10742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.9236G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg3079Lys",
        "hgvsWellDefined": "XP_005251041.1:p.Arg3079Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9517,
          "referenceAllele": "G",
          "start": 9516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.9413G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg3138Lys",
        "hgvsWellDefined": "XP_006716651.1:p.Arg3138Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9388,
          "referenceAllele": "G",
          "start": 9387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.9263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg3088Lys",
        "hgvsWellDefined": "XP_006716653.1:p.Arg3088Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9453,
          "referenceAllele": "G",
          "start": 9452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.9332G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg3111Lys",
        "hgvsWellDefined": "XP_011515432.1:p.Arg3111Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9372,
          "referenceAllele": "G",
          "start": 9371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.9248G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg3083Lys",
        "hgvsWellDefined": "XP_011515433.1:p.Arg3083Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6080,
          "referenceAllele": "G",
          "start": 6079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.5963G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg1988Lys",
        "hgvsWellDefined": "XP_011515434.1:p.Arg1988Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175526",
      "coordinates": [
        {
          "allele": "A",
          "end": 9447,
          "referenceAllele": "G",
          "start": 9446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.9398G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg3133Lys",
        "hgvsWellDefined": "NP_000436.2:p.Arg3133Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479982",
      "coordinates": [
        {
          "allele": "A",
          "end": 9332,
          "referenceAllele": "G",
          "start": 9331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.9275G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg3092Lys",
        "hgvsWellDefined": "NP_958780.1:p.Arg3092Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9275G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9275G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg3092Lys"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg3092Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486608",
      "coordinates": [
        {
          "allele": "A",
          "end": 9314,
          "referenceAllele": "G",
          "start": 9313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.9251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg3084Lys",
        "hgvsWellDefined": "NP_958781.1:p.Arg3084Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499304903",
      "coordinates": [
        {
          "allele": "A",
          "end": 9948,
          "referenceAllele": "G",
          "start": 9947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.9728G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg3243Lys",
        "hgvsWellDefined": "NP_958782.1:p.Arg3243Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492996",
      "coordinates": [
        {
          "allele": "A",
          "end": 9328,
          "referenceAllele": "G",
          "start": 9327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.9221G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg3074Lys",
        "hgvsWellDefined": "NP_958783.1:p.Arg3074Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497634",
      "coordinates": [
        {
          "allele": "A",
          "end": 9412,
          "referenceAllele": "G",
          "start": 9411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.9317G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg3106Lys",
        "hgvsWellDefined": "NP_958784.1:p.Arg3106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502245",
      "coordinates": [
        {
          "allele": "A",
          "end": 9438,
          "referenceAllele": "G",
          "start": 9437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.9329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg3110Lys",
        "hgvsWellDefined": "NP_958785.1:p.Arg3110Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506878",
      "coordinates": [
        {
          "allele": "A",
          "end": 9453,
          "referenceAllele": "G",
          "start": 9452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.9317G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg3106Lys",
        "hgvsWellDefined": "NP_958786.1:p.Arg3106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9317G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9317G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg3106Lys"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg3106Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}