{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4924812",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.9926G>A (p.Arg3309His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1221060",
        "active": true,
        "id": "COSM1221060"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1221061",
        "active": true,
        "id": "COSM1221061"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1221062",
        "active": true,
        "id": "COSM1221062"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488440[alleleid]",
        "alleleId": 488440,
        "preferredName": "NM_201384.3(PLEC):c.9926G>A (p.Arg3309His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/497016",
        "RCV": [
          "RCV000592614",
          "RCV001088888",
          "RCV004527670"
        ],
        "variationId": 497016
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144994063-C-T",
        "id": "8-144994063-C-T",
        "variant": "8:144994063 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144994063C>T?assembly=hg19",
        "id": "chr8:g.144994063C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143919895C>T?assembly=hg38",
        "id": "chr8:g.143919895C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201369301",
        "rs": 201369301
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144994063-C-T?dataset=gnomad_r2_1",
        "id": "8-144994063-C-T",
        "variant": "8:144994063 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919895-C-T?dataset=gnomad_r3",
        "id": "8-143919895-C-T",
        "variant": "8:143919895 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919895-C-T?dataset=gnomad_r4",
        "id": "8-143919895-C-T",
        "variant": "8:143919895 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143919895,
          "referenceAllele": "C",
          "start": 143919894
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143919895C>T",
        "CM000670.2:g.143919895C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144994063,
          "referenceAllele": "C",
          "start": 144994062
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144994063C>T",
        "CM000670.1:g.144994063C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145066051,
          "referenceAllele": "C",
          "start": 145066050
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145066051C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61851,
          "referenceAllele": "G",
          "start": 61850
        }
      ],
      "hgvs": [
        "NG_012492.1:g.61851G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10064,
          "referenceAllele": "G",
          "start": 10063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.10058G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Arg3353His",
        "hgvsWellDefined": "ENSP00000437303.2:p.Arg3353His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10019,
          "referenceAllele": "G",
          "start": 10018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.9977G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Arg3326His",
        "hgvsWellDefined": "ENSP00000510528.1:p.Arg3326His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9977,
          "referenceAllele": "G",
          "start": 9976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.9644G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Arg3215His",
        "hgvsWellDefined": "ENSP00000510788.1:p.Arg3215His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9870,
          "referenceAllele": "G",
          "start": 9869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.9857G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Arg3286His",
        "hgvsWellDefined": "ENSP00000510329.1:p.Arg3286His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10062,
          "referenceAllele": "G",
          "start": 10061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.9926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg3309His",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg3309His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9926G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9926G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg3309His"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg3309His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6664,
          "referenceAllele": "G",
          "start": 6663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.6626G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Arg2209His",
        "hgvsWellDefined": "ENSP00000433982.2:p.Arg2209His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10507,
          "referenceAllele": "G",
          "start": 10506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.10337G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Arg3446His",
        "hgvsWellDefined": "ENSP00000323856.4:p.Arg3446His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10055,
          "referenceAllele": "G",
          "start": 10054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.9926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg3309His",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg3309His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9994,
          "referenceAllele": "G",
          "start": 9993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.9926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Arg3309His",
        "hgvsWellDefined": "ENSP00000346602.3:p.Arg3309His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10009,
          "referenceAllele": "G",
          "start": 10008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.9860G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Arg3287His",
        "hgvsWellDefined": "ENSP00000347044.2:p.Arg3287His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9941,
          "referenceAllele": "G",
          "start": 9940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.9884G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Arg3295His",
        "hgvsWellDefined": "ENSP00000348702.3:p.Arg3295His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9884G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9884G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg3295His"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg3295His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9947,
          "referenceAllele": "G",
          "start": 9946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.9938G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Arg3313His",
        "hgvsWellDefined": "ENSP00000350277.2:p.Arg3313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9904,
          "referenceAllele": "G",
          "start": 9903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.9830G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Arg3277His",
        "hgvsWellDefined": "ENSP00000381756.2:p.Arg3277His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10045,
          "referenceAllele": "G",
          "start": 10044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.10007G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Arg3336His",
        "hgvsWellDefined": "ENSP00000388180.2:p.Arg3336His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9995,
          "referenceAllele": "G",
          "start": 9994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.9995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Arg3332His",
        "hgvsWellDefined": "ENSP00000434583.1:p.Arg3332His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175768",
      "coordinates": [
        {
          "allele": "A",
          "end": 10056,
          "referenceAllele": "G",
          "start": 10055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.10007G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg3336His",
        "hgvsWellDefined": "NP_000436.2:p.Arg3336His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480317",
      "coordinates": [
        {
          "allele": "A",
          "end": 9941,
          "referenceAllele": "G",
          "start": 9940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.9884G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg3295His",
        "hgvsWellDefined": "NP_958780.1:p.Arg3295His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486848",
      "coordinates": [
        {
          "allele": "A",
          "end": 10009,
          "referenceAllele": "G",
          "start": 10008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.9860G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg3287His",
        "hgvsWellDefined": "NP_958781.1:p.Arg3287His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812162",
      "coordinates": [
        {
          "allele": "A",
          "end": 10507,
          "referenceAllele": "G",
          "start": 10506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.10337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg3446His",
        "hgvsWellDefined": "NP_958782.1:p.Arg3446His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493238",
      "coordinates": [
        {
          "allele": "A",
          "end": 9904,
          "referenceAllele": "G",
          "start": 9903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.9830G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg3277His",
        "hgvsWellDefined": "NP_958783.1:p.Arg3277His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497874",
      "coordinates": [
        {
          "allele": "A",
          "end": 9994,
          "referenceAllele": "G",
          "start": 9993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.9926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg3309His",
        "hgvsWellDefined": "NP_958784.1:p.Arg3309His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502485",
      "coordinates": [
        {
          "allele": "A",
          "end": 9947,
          "referenceAllele": "G",
          "start": 9946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.9938G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg3313His",
        "hgvsWellDefined": "NP_958785.1:p.Arg3313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507119",
      "coordinates": [
        {
          "allele": "A",
          "end": 10055,
          "referenceAllele": "G",
          "start": 10054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.9926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg3309His",
        "hgvsWellDefined": "NP_958786.1:p.Arg3309His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10455,
          "referenceAllele": "G",
          "start": 10454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.10352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg3451His",
        "hgvsWellDefined": "XP_005251033.1:p.Arg3451His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10055,
          "referenceAllele": "G",
          "start": 10054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.9953G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg3318His",
        "hgvsWellDefined": "XP_005251035.1:p.Arg3318His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9998,
          "referenceAllele": "G",
          "start": 9997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.9941G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg3314His",
        "hgvsWellDefined": "XP_005251036.1:p.Arg3314His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10088,
          "referenceAllele": "G",
          "start": 10087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.9941G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg3314His",
        "hgvsWellDefined": "XP_005251037.1:p.Arg3314His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9941,
          "referenceAllele": "G",
          "start": 9940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.9899G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg3300His",
        "hgvsWellDefined": "XP_005251038.1:p.Arg3300His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9940,
          "referenceAllele": "G",
          "start": 9939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.9875G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg3292His",
        "hgvsWellDefined": "XP_005251039.1:p.Arg3292His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9872,
          "referenceAllele": "G",
          "start": 9871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.9857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Arg3286His",
        "hgvsWellDefined": "XP_005251040.1:p.Arg3286His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9931,
          "referenceAllele": "G",
          "start": 9930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.9845G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg3282His",
        "hgvsWellDefined": "XP_005251041.1:p.Arg3282His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10118,
          "referenceAllele": "G",
          "start": 10117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.10022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg3341His",
        "hgvsWellDefined": "XP_006716651.1:p.Arg3341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9887,
          "referenceAllele": "G",
          "start": 9886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.9872G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Arg3291His",
        "hgvsWellDefined": "XP_006716652.1:p.Arg3291His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9887,
          "referenceAllele": "G",
          "start": 9886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.9872G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg3291His",
        "hgvsWellDefined": "XP_006716653.1:p.Arg3291His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10043,
          "referenceAllele": "G",
          "start": 10042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.9941G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg3314His",
        "hgvsWellDefined": "XP_011515432.1:p.Arg3314His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9872,
          "referenceAllele": "G",
          "start": 9871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.9857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg3286His",
        "hgvsWellDefined": "XP_011515433.1:p.Arg3286His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6667,
          "referenceAllele": "G",
          "start": 6666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.6572G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg2191His",
        "hgvsWellDefined": "XP_011515434.1:p.Arg2191His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10548,
          "referenceAllele": "G",
          "start": 10547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.10352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg3451His",
        "hgvsWellDefined": "XP_005251033.1:p.Arg3451His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10074,
          "referenceAllele": "G",
          "start": 10073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.9953G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg3318His",
        "hgvsWellDefined": "XP_005251035.1:p.Arg3318His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10033,
          "referenceAllele": "G",
          "start": 10032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.9941G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg3314His",
        "hgvsWellDefined": "XP_005251036.1:p.Arg3314His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10118,
          "referenceAllele": "G",
          "start": 10117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.9941G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg3314His",
        "hgvsWellDefined": "XP_005251037.1:p.Arg3314His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9955,
          "referenceAllele": "G",
          "start": 9954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.9899G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg3300His",
        "hgvsWellDefined": "XP_005251038.1:p.Arg3300His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9944,
          "referenceAllele": "G",
          "start": 9943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.9875G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg3292His",
        "hgvsWellDefined": "XP_005251039.1:p.Arg3292His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11352,
          "referenceAllele": "G",
          "start": 11351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.9845G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg3282His",
        "hgvsWellDefined": "XP_005251041.1:p.Arg3282His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10126,
          "referenceAllele": "G",
          "start": 10125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.10022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg3341His",
        "hgvsWellDefined": "XP_006716651.1:p.Arg3341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9997,
          "referenceAllele": "G",
          "start": 9996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.9872G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg3291His",
        "hgvsWellDefined": "XP_006716653.1:p.Arg3291His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10062,
          "referenceAllele": "G",
          "start": 10061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.9941G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg3314His",
        "hgvsWellDefined": "XP_011515432.1:p.Arg3314His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9981,
          "referenceAllele": "G",
          "start": 9980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.9857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg3286His",
        "hgvsWellDefined": "XP_011515433.1:p.Arg3286His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6689,
          "referenceAllele": "G",
          "start": 6688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.6572G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg2191His",
        "hgvsWellDefined": "XP_011515434.1:p.Arg2191His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175768",
      "coordinates": [
        {
          "allele": "A",
          "end": 10056,
          "referenceAllele": "G",
          "start": 10055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.10007G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg3336His",
        "hgvsWellDefined": "NP_000436.2:p.Arg3336His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480317",
      "coordinates": [
        {
          "allele": "A",
          "end": 9941,
          "referenceAllele": "G",
          "start": 9940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.9884G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg3295His",
        "hgvsWellDefined": "NP_958780.1:p.Arg3295His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9884G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9884G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg3295His"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg3295His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486848",
      "coordinates": [
        {
          "allele": "A",
          "end": 9923,
          "referenceAllele": "G",
          "start": 9922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.9860G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg3287His",
        "hgvsWellDefined": "NP_958781.1:p.Arg3287His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812162",
      "coordinates": [
        {
          "allele": "A",
          "end": 10557,
          "referenceAllele": "G",
          "start": 10556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.10337G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg3446His",
        "hgvsWellDefined": "NP_958782.1:p.Arg3446His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493238",
      "coordinates": [
        {
          "allele": "A",
          "end": 9937,
          "referenceAllele": "G",
          "start": 9936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.9830G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg3277His",
        "hgvsWellDefined": "NP_958783.1:p.Arg3277His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497874",
      "coordinates": [
        {
          "allele": "A",
          "end": 10021,
          "referenceAllele": "G",
          "start": 10020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.9926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg3309His",
        "hgvsWellDefined": "NP_958784.1:p.Arg3309His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502485",
      "coordinates": [
        {
          "allele": "A",
          "end": 10047,
          "referenceAllele": "G",
          "start": 10046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.9938G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg3313His",
        "hgvsWellDefined": "NP_958785.1:p.Arg3313His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507119",
      "coordinates": [
        {
          "allele": "A",
          "end": 10062,
          "referenceAllele": "G",
          "start": 10061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.9926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg3309His",
        "hgvsWellDefined": "NP_958786.1:p.Arg3309His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9926G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9926G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg3309His"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg3309His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}