{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377641997",
  "communityStandardTitle": [
    "NM_016341.4(PLCE1):c.5329A>T (p.Thr1777Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.96058297A>T?assembly=hg19",
        "id": "chr10:g.96058297A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94298540A>T?assembly=hg38",
        "id": "chr10:g.94298540A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 94298540,
          "referenceAllele": "A",
          "start": 94298539
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94298540A>T",
        "CM000672.2:g.94298540A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 96058297,
          "referenceAllele": "A",
          "start": 96058296
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96058297A>T",
        "CM000672.1:g.96058297A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 96048287,
          "referenceAllele": "A",
          "start": 96048286
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96048287A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309552,
          "referenceAllele": "A",
          "start": 309551
        }
      ],
      "hgvs": [
        "NG_015799.1:g.309552A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002831"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4405,
          "referenceAllele": "A",
          "start": 4404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.2:c.4405A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Thr1469Ser",
        "hgvsWellDefined": "ENSP00000360426.1:p.Thr1469Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5616,
          "referenceAllele": "A",
          "start": 5615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685253.1:c.*1872A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509405.1:n.*1872A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2064,
          "referenceAllele": "A",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685889.1:n.2064A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "referenceAllele": "A",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686807.1:n.748A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5806,
          "referenceAllele": "A",
          "start": 5805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686954.1:c.*613A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508416.1:n.*613A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4357,
          "referenceAllele": "A",
          "start": 4356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000688810.1:c.4357A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509140.1:p.Thr1453Ser",
        "hgvsWellDefined": "ENSP00000509140.1:p.Thr1453Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9537,
          "referenceAllele": "A",
          "start": 9536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000689233.1:n.9537A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3002,
          "referenceAllele": "A",
          "start": 3001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000690340.1:n.3002A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5527,
          "referenceAllele": "A",
          "start": 5526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692286.1:c.5197A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509490.1:p.Thr1733Ser",
        "hgvsWellDefined": "ENSP00000509490.1:p.Thr1733Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5870,
          "referenceAllele": "A",
          "start": 5869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692396.1:c.5281A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508605.1:p.Thr1761Ser",
        "hgvsWellDefined": "ENSP00000508605.1:p.Thr1761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6021,
          "referenceAllele": "A",
          "start": 6020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.8:c.5329A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Thr1777Ser",
        "hgvsWellDefined": "ENSP00000360431.2:p.Thr1777Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5329A>T"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5329A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Thr1777Ser"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Thr1777Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4358,
          "referenceAllele": "A",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.8:c.4303A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.4:p.Thr1435Ser",
        "hgvsWellDefined": "ENSP00000360438.4:p.Thr1435Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3884,
          "referenceAllele": "A",
          "start": 3883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674738.1:c.3884A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3445,
          "referenceAllele": "A",
          "start": 3444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674827.1:c.3445A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502523.1:p.Thr1149Ser",
        "hgvsWellDefined": "ENSP00000502523.1:p.Thr1149Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4405,
          "referenceAllele": "A",
          "start": 4404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675218.1:c.4405A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501910.1:p.Thr1469Ser",
        "hgvsWellDefined": "ENSP00000501910.1:p.Thr1469Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5562,
          "referenceAllele": "A",
          "start": 5561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675487.1:c.*1262A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502340.1:n.*1262A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4598,
          "referenceAllele": "A",
          "start": 4597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675718.1:c.4598A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5963,
          "referenceAllele": "A",
          "start": 5962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000260766.7:c.5329A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260766.3:p.Thr1777Ser",
        "hgvsWellDefined": "ENSP00000260766.3:p.Thr1777Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4405,
          "referenceAllele": "A",
          "start": 4404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.1:c.4405A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Thr1469Ser",
        "hgvsWellDefined": "ENSP00000360426.1:p.Thr1469Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5564,
          "referenceAllele": "A",
          "start": 5563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.7:c.5329A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Thr1777Ser",
        "hgvsWellDefined": "ENSP00000360431.2:p.Thr1777Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4474,
          "referenceAllele": "A",
          "start": 4473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.7:c.4405A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.3:p.Thr1469Ser",
        "hgvsWellDefined": "ENSP00000360438.3:p.Thr1469Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4474,
          "referenceAllele": "A",
          "start": 4473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001165979.2:c.4405A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159451.1:p.Thr1469Ser",
        "hgvsWellDefined": "NP_001159451.1:p.Thr1469Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5915,
          "referenceAllele": "A",
          "start": 5914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.1:c.5281A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Thr1761Ser",
        "hgvsWellDefined": "NP_001275918.1:p.Thr1761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5963,
          "referenceAllele": "A",
          "start": 5962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.3:c.5329A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Thr1777Ser",
        "hgvsWellDefined": "NP_057425.3:p.Thr1777Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5955,
          "referenceAllele": "A",
          "start": 5954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.2:c.5371A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Thr1791Ser",
        "hgvsWellDefined": "XP_006717948.1:p.Thr1791Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5955,
          "referenceAllele": "A",
          "start": 5954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717886.2:c.5371A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717949.1:p.Thr1791Ser",
        "hgvsWellDefined": "XP_006717949.1:p.Thr1791Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5952,
          "referenceAllele": "A",
          "start": 5951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.2:c.5368A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Thr1790Ser",
        "hgvsWellDefined": "XP_006717951.1:p.Thr1790Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5907,
          "referenceAllele": "A",
          "start": 5906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.2:c.5323A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Thr1775Ser",
        "hgvsWellDefined": "XP_006717952.1:p.Thr1775Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4469,
          "referenceAllele": "A",
          "start": 4468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.1:c.4447A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Thr1483Ser",
        "hgvsWellDefined": "XP_006717953.1:p.Thr1483Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5754,
          "referenceAllele": "A",
          "start": 5753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.1:c.5371A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Thr1791Ser",
        "hgvsWellDefined": "XP_011538151.1:p.Thr1791Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4251,
          "referenceAllele": "A",
          "start": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.1:c.4216A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Thr1406Ser",
        "hgvsWellDefined": "XP_011538152.1:p.Thr1406Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5953,
          "referenceAllele": "A",
          "start": 5952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.4:c.5371A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Thr1791Ser",
        "hgvsWellDefined": "XP_006717948.1:p.Thr1791Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5950,
          "referenceAllele": "A",
          "start": 5949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.4:c.5368A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Thr1790Ser",
        "hgvsWellDefined": "XP_006717951.1:p.Thr1790Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5905,
          "referenceAllele": "A",
          "start": 5904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.4:c.5323A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Thr1775Ser",
        "hgvsWellDefined": "XP_006717952.1:p.Thr1775Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4469,
          "referenceAllele": "A",
          "start": 4468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.3:c.4447A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Thr1483Ser",
        "hgvsWellDefined": "XP_006717953.1:p.Thr1483Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7110,
          "referenceAllele": "A",
          "start": 7109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.3:c.5371A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Thr1791Ser",
        "hgvsWellDefined": "XP_011538151.1:p.Thr1791Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5598,
          "referenceAllele": "A",
          "start": 5597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.3:c.4216A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Thr1406Ser",
        "hgvsWellDefined": "XP_011538152.1:p.Thr1406Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6000,
          "referenceAllele": "A",
          "start": 5999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016310.2:c.5371A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871799.1:p.Thr1791Ser",
        "hgvsWellDefined": "XP_016871799.1:p.Thr1791Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5953,
          "referenceAllele": "A",
          "start": 5952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016311.2:c.5371A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871800.1:p.Thr1791Ser",
        "hgvsWellDefined": "XP_016871800.1:p.Thr1791Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4379,
          "referenceAllele": "A",
          "start": 4378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016312.2:c.4357A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871801.1:p.Thr1453Ser",
        "hgvsWellDefined": "XP_016871801.1:p.Thr1453Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5973,
          "referenceAllele": "A",
          "start": 5972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.2:c.5281A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Thr1761Ser",
        "hgvsWellDefined": "NP_001275918.1:p.Thr1761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6021,
          "referenceAllele": "A",
          "start": 6020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.4:c.5329A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Thr1777Ser",
        "hgvsWellDefined": "NP_057425.3:p.Thr1777Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5329A>T"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5329A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Thr1777Ser"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Thr1777Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}