{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4927503",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266086[alleleid]",
        "alleleId": 266086,
        "preferredName": "NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281849",
        "RCV": [
          "RCV000389873",
          "RCV001082840"
        ],
        "variationId": 281849
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145004447-T-C",
        "id": "8-145004447-T-C",
        "variant": "8:145004447 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145004447T>C?assembly=hg19",
        "id": "chr8:g.145004447T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143930279T>C?assembly=hg38",
        "id": "chr8:g.143930279T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369344419",
        "rs": 369344419
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145004447-T-C?dataset=gnomad_r2_1",
        "id": "8-145004447-T-C",
        "variant": "8:145004447 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143930279-T-C?dataset=gnomad_r3",
        "id": "8-143930279-T-C",
        "variant": "8:143930279 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143930279-T-C?dataset=gnomad_r4",
        "id": "8-143930279-T-C",
        "variant": "8:143930279 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 143930279,
          "referenceAllele": "T",
          "start": 143930278
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143930279T>C",
        "CM000670.2:g.143930279T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 145004447,
          "referenceAllele": "T",
          "start": 145004446
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145004447T>C",
        "CM000670.1:g.145004447T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 145076435,
          "referenceAllele": "T",
          "start": 145076434
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145076435T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 51467,
          "referenceAllele": "A",
          "start": 51466
        }
      ],
      "hgvs": [
        "NG_012492.1:g.51467A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2615,
          "referenceAllele": "A",
          "start": 2614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.2609A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Asp870Gly",
        "hgvsWellDefined": "ENSP00000437303.2:p.Asp870Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2570,
          "referenceAllele": "A",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.2528A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Asp843Gly",
        "hgvsWellDefined": "ENSP00000510528.1:p.Asp843Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2528,
          "referenceAllele": "A",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.2195A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Asp732Gly",
        "hgvsWellDefined": "ENSP00000510788.1:p.Asp732Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2421,
          "referenceAllele": "A",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.2408A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Asp803Gly",
        "hgvsWellDefined": "ENSP00000510329.1:p.Asp803Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2613,
          "referenceAllele": "A",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.2477A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Asp826Gly",
        "hgvsWellDefined": "ENSP00000344848.3:p.Asp826Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2477A>G"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2477A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Asp826Gly"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Asp826Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2596,
          "referenceAllele": "A",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.2558A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Asp853Gly",
        "hgvsWellDefined": "ENSP00000433982.2:p.Asp853Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3058,
          "referenceAllele": "A",
          "start": 3057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.2888A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Asp963Gly",
        "hgvsWellDefined": "ENSP00000323856.4:p.Asp963Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2606,
          "referenceAllele": "A",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.2477A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Asp826Gly",
        "hgvsWellDefined": "ENSP00000344848.3:p.Asp826Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2545,
          "referenceAllele": "A",
          "start": 2544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.2477A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Asp826Gly",
        "hgvsWellDefined": "ENSP00000346602.3:p.Asp826Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2560,
          "referenceAllele": "A",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.2411A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Asp804Gly",
        "hgvsWellDefined": "ENSP00000347044.2:p.Asp804Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2492,
          "referenceAllele": "A",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.2435A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Asp812Gly",
        "hgvsWellDefined": "ENSP00000348702.3:p.Asp812Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2435A>G"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2435A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Asp812Gly"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Asp812Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2498,
          "referenceAllele": "A",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.2489A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Asp830Gly",
        "hgvsWellDefined": "ENSP00000350277.2:p.Asp830Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2455,
          "referenceAllele": "A",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.2381A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Asp794Gly",
        "hgvsWellDefined": "ENSP00000381756.2:p.Asp794Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2596,
          "referenceAllele": "A",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.2558A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Asp853Gly",
        "hgvsWellDefined": "ENSP00000388180.2:p.Asp853Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2546,
          "referenceAllele": "A",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.2546A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Asp849Gly",
        "hgvsWellDefined": "ENSP00000434583.1:p.Asp849Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173029",
      "coordinates": [
        {
          "allele": "G",
          "end": 2607,
          "referenceAllele": "A",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.2558A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Asp853Gly",
        "hgvsWellDefined": "NP_000436.2:p.Asp853Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830475963",
      "coordinates": [
        {
          "allele": "G",
          "end": 2492,
          "referenceAllele": "A",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.2435A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Asp812Gly",
        "hgvsWellDefined": "NP_958780.1:p.Asp812Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483084",
      "coordinates": [
        {
          "allele": "G",
          "end": 2560,
          "referenceAllele": "A",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.2411A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Asp804Gly",
        "hgvsWellDefined": "NP_958781.1:p.Asp804Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458273",
      "coordinates": [
        {
          "allele": "G",
          "end": 3058,
          "referenceAllele": "A",
          "start": 3057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.2888A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Asp963Gly",
        "hgvsWellDefined": "NP_958782.1:p.Asp963Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490463",
      "coordinates": [
        {
          "allele": "G",
          "end": 2455,
          "referenceAllele": "A",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.2381A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Asp794Gly",
        "hgvsWellDefined": "NP_958783.1:p.Asp794Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495093",
      "coordinates": [
        {
          "allele": "G",
          "end": 2545,
          "referenceAllele": "A",
          "start": 2544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.2477A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Asp826Gly",
        "hgvsWellDefined": "NP_958784.1:p.Asp826Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499720",
      "coordinates": [
        {
          "allele": "G",
          "end": 2498,
          "referenceAllele": "A",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.2489A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Asp830Gly",
        "hgvsWellDefined": "NP_958785.1:p.Asp830Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504340",
      "coordinates": [
        {
          "allele": "G",
          "end": 2606,
          "referenceAllele": "A",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.2477A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Asp826Gly",
        "hgvsWellDefined": "NP_958786.1:p.Asp826Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3006,
          "referenceAllele": "A",
          "start": 3005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.2903A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Asp968Gly",
        "hgvsWellDefined": "XP_005251033.1:p.Asp968Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2606,
          "referenceAllele": "A",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.2504A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Asp835Gly",
        "hgvsWellDefined": "XP_005251035.1:p.Asp835Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2549,
          "referenceAllele": "A",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.2492A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Asp831Gly",
        "hgvsWellDefined": "XP_005251036.1:p.Asp831Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2639,
          "referenceAllele": "A",
          "start": 2638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.2492A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Asp831Gly",
        "hgvsWellDefined": "XP_005251037.1:p.Asp831Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2492,
          "referenceAllele": "A",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.2450A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Asp817Gly",
        "hgvsWellDefined": "XP_005251038.1:p.Asp817Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2491,
          "referenceAllele": "A",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.2426A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Asp809Gly",
        "hgvsWellDefined": "XP_005251039.1:p.Asp809Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2423,
          "referenceAllele": "A",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.2408A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Asp803Gly",
        "hgvsWellDefined": "XP_005251040.1:p.Asp803Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2482,
          "referenceAllele": "A",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.2396A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Asp799Gly",
        "hgvsWellDefined": "XP_005251041.1:p.Asp799Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2669,
          "referenceAllele": "A",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.2573A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Asp858Gly",
        "hgvsWellDefined": "XP_006716651.1:p.Asp858Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2438,
          "referenceAllele": "A",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.2423A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Asp808Gly",
        "hgvsWellDefined": "XP_006716652.1:p.Asp808Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2438,
          "referenceAllele": "A",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.2423A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Asp808Gly",
        "hgvsWellDefined": "XP_006716653.1:p.Asp808Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2594,
          "referenceAllele": "A",
          "start": 2593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.2492A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Asp831Gly",
        "hgvsWellDefined": "XP_011515432.1:p.Asp831Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2423,
          "referenceAllele": "A",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.2408A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Asp803Gly",
        "hgvsWellDefined": "XP_011515433.1:p.Asp803Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2599,
          "referenceAllele": "A",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.2504A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Asp835Gly",
        "hgvsWellDefined": "XP_011515434.1:p.Asp835Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3099,
          "referenceAllele": "A",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.2903A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Asp968Gly",
        "hgvsWellDefined": "XP_005251033.1:p.Asp968Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2625,
          "referenceAllele": "A",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.2504A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Asp835Gly",
        "hgvsWellDefined": "XP_005251035.1:p.Asp835Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2584,
          "referenceAllele": "A",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.2492A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Asp831Gly",
        "hgvsWellDefined": "XP_005251036.1:p.Asp831Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2669,
          "referenceAllele": "A",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.2492A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Asp831Gly",
        "hgvsWellDefined": "XP_005251037.1:p.Asp831Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2506,
          "referenceAllele": "A",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.2450A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Asp817Gly",
        "hgvsWellDefined": "XP_005251038.1:p.Asp817Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2495,
          "referenceAllele": "A",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.2426A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Asp809Gly",
        "hgvsWellDefined": "XP_005251039.1:p.Asp809Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3903,
          "referenceAllele": "A",
          "start": 3902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.2396A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Asp799Gly",
        "hgvsWellDefined": "XP_005251041.1:p.Asp799Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2677,
          "referenceAllele": "A",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.2573A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Asp858Gly",
        "hgvsWellDefined": "XP_006716651.1:p.Asp858Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2548,
          "referenceAllele": "A",
          "start": 2547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.2423A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Asp808Gly",
        "hgvsWellDefined": "XP_006716653.1:p.Asp808Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2613,
          "referenceAllele": "A",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.2492A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Asp831Gly",
        "hgvsWellDefined": "XP_011515432.1:p.Asp831Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2532,
          "referenceAllele": "A",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.2408A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Asp803Gly",
        "hgvsWellDefined": "XP_011515433.1:p.Asp803Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2621,
          "referenceAllele": "A",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.2504A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Asp835Gly",
        "hgvsWellDefined": "XP_011515434.1:p.Asp835Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173029",
      "coordinates": [
        {
          "allele": "G",
          "end": 2607,
          "referenceAllele": "A",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.2558A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Asp853Gly",
        "hgvsWellDefined": "NP_000436.2:p.Asp853Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830475963",
      "coordinates": [
        {
          "allele": "G",
          "end": 2492,
          "referenceAllele": "A",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.2435A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Asp812Gly",
        "hgvsWellDefined": "NP_958780.1:p.Asp812Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2435A>G"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2435A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Asp812Gly"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Asp812Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483084",
      "coordinates": [
        {
          "allele": "G",
          "end": 2474,
          "referenceAllele": "A",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.2411A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Asp804Gly",
        "hgvsWellDefined": "NP_958781.1:p.Asp804Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458273",
      "coordinates": [
        {
          "allele": "G",
          "end": 3108,
          "referenceAllele": "A",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.2888A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Asp963Gly",
        "hgvsWellDefined": "NP_958782.1:p.Asp963Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490463",
      "coordinates": [
        {
          "allele": "G",
          "end": 2488,
          "referenceAllele": "A",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.2381A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Asp794Gly",
        "hgvsWellDefined": "NP_958783.1:p.Asp794Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495093",
      "coordinates": [
        {
          "allele": "G",
          "end": 2572,
          "referenceAllele": "A",
          "start": 2571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.2477A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Asp826Gly",
        "hgvsWellDefined": "NP_958784.1:p.Asp826Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499720",
      "coordinates": [
        {
          "allele": "G",
          "end": 2598,
          "referenceAllele": "A",
          "start": 2597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.2489A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Asp830Gly",
        "hgvsWellDefined": "NP_958785.1:p.Asp830Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504340",
      "coordinates": [
        {
          "allele": "G",
          "end": 2613,
          "referenceAllele": "A",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.2477A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Asp826Gly",
        "hgvsWellDefined": "NP_958786.1:p.Asp826Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2477A>G"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2477A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Asp826Gly"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Asp826Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}