{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377641693",
  "communityStandardTitle": [
    "NM_016341.4(PLCE1):c.5189A>C (p.Gln1730Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.96058157A>C?assembly=hg19",
        "id": "chr10:g.96058157A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94298400A>C?assembly=hg38",
        "id": "chr10:g.94298400A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 94298400,
          "referenceAllele": "A",
          "start": 94298399
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94298400A>C",
        "CM000672.2:g.94298400A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 96058157,
          "referenceAllele": "A",
          "start": 96058156
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96058157A>C",
        "CM000672.1:g.96058157A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 96048147,
          "referenceAllele": "A",
          "start": 96048146
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96048147A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 309412,
          "referenceAllele": "A",
          "start": 309411
        }
      ],
      "hgvs": [
        "NG_015799.1:g.309412A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002831"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4265,
          "referenceAllele": "A",
          "start": 4264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.2:c.4265A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Gln1422Pro",
        "hgvsWellDefined": "ENSP00000360426.1:p.Gln1422Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5476,
          "referenceAllele": "A",
          "start": 5475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685253.1:c.*1732A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509405.1:n.*1732A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829968"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1924,
          "referenceAllele": "A",
          "start": 1923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685889.1:n.1924A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686807.1:n.608A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830755"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5666,
          "referenceAllele": "A",
          "start": 5665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686954.1:c.*473A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508416.1:n.*473A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4217,
          "referenceAllele": "A",
          "start": 4216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000688810.1:c.4217A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509140.1:p.Gln1406Pro",
        "hgvsWellDefined": "ENSP00000509140.1:p.Gln1406Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9397,
          "referenceAllele": "A",
          "start": 9396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000689233.1:n.9397A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2862,
          "referenceAllele": "A",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000690340.1:n.2862A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5387,
          "referenceAllele": "A",
          "start": 5386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692286.1:c.5057A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509490.1:p.Gln1686Pro",
        "hgvsWellDefined": "ENSP00000509490.1:p.Gln1686Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5730,
          "referenceAllele": "A",
          "start": 5729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692396.1:c.5141A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508605.1:p.Gln1714Pro",
        "hgvsWellDefined": "ENSP00000508605.1:p.Gln1714Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5881,
          "referenceAllele": "A",
          "start": 5880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.8:c.5189A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Gln1730Pro",
        "hgvsWellDefined": "ENSP00000360431.2:p.Gln1730Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5189A>C"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5189A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Gln1730Pro"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Gln1730Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4218,
          "referenceAllele": "A",
          "start": 4217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.8:c.4163A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.4:p.Gln1388Pro",
        "hgvsWellDefined": "ENSP00000360438.4:p.Gln1388Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3744,
          "referenceAllele": "A",
          "start": 3743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674738.1:c.3744A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3305,
          "referenceAllele": "A",
          "start": 3304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674827.1:c.3305A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502523.1:p.Gln1102Pro",
        "hgvsWellDefined": "ENSP00000502523.1:p.Gln1102Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4265,
          "referenceAllele": "A",
          "start": 4264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675218.1:c.4265A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501910.1:p.Gln1422Pro",
        "hgvsWellDefined": "ENSP00000501910.1:p.Gln1422Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5422,
          "referenceAllele": "A",
          "start": 5421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675487.1:c.*1122A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502340.1:n.*1122A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4458,
          "referenceAllele": "A",
          "start": 4457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675718.1:c.4458A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775499"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4089,
          "referenceAllele": "A",
          "start": 4088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000676102.1:c.4034A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502811.1:p.Gln1345Pro",
        "hgvsWellDefined": "ENSP00000502811.1:p.Gln1345Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5823,
          "referenceAllele": "A",
          "start": 5822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000260766.7:c.5189A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260766.3:p.Gln1730Pro",
        "hgvsWellDefined": "ENSP00000260766.3:p.Gln1730Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4265,
          "referenceAllele": "A",
          "start": 4264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.1:c.4265A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Gln1422Pro",
        "hgvsWellDefined": "ENSP00000360426.1:p.Gln1422Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5424,
          "referenceAllele": "A",
          "start": 5423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.7:c.5189A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Gln1730Pro",
        "hgvsWellDefined": "ENSP00000360431.2:p.Gln1730Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4334,
          "referenceAllele": "A",
          "start": 4333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.7:c.4265A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.3:p.Gln1422Pro",
        "hgvsWellDefined": "ENSP00000360438.3:p.Gln1422Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4334,
          "referenceAllele": "A",
          "start": 4333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001165979.2:c.4265A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159451.1:p.Gln1422Pro",
        "hgvsWellDefined": "NP_001159451.1:p.Gln1422Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014755"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.1:c.5141A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Gln1714Pro",
        "hgvsWellDefined": "NP_001275918.1:p.Gln1714Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5823,
          "referenceAllele": "A",
          "start": 5822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.3:c.5189A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Gln1730Pro",
        "hgvsWellDefined": "NP_057425.3:p.Gln1730Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5815,
          "referenceAllele": "A",
          "start": 5814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.2:c.5231A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Gln1744Pro",
        "hgvsWellDefined": "XP_006717948.1:p.Gln1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5815,
          "referenceAllele": "A",
          "start": 5814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717886.2:c.5231A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717949.1:p.Gln1744Pro",
        "hgvsWellDefined": "XP_006717949.1:p.Gln1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5812,
          "referenceAllele": "A",
          "start": 5811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.2:c.5228A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Gln1743Pro",
        "hgvsWellDefined": "XP_006717951.1:p.Gln1743Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5767,
          "referenceAllele": "A",
          "start": 5766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.2:c.5183A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Gln1728Pro",
        "hgvsWellDefined": "XP_006717952.1:p.Gln1728Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072363"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4329,
          "referenceAllele": "A",
          "start": 4328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.1:c.4307A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Gln1436Pro",
        "hgvsWellDefined": "XP_006717953.1:p.Gln1436Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5614,
          "referenceAllele": "A",
          "start": 5613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.1:c.5231A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Gln1744Pro",
        "hgvsWellDefined": "XP_011538151.1:p.Gln1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106799"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4111,
          "referenceAllele": "A",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.1:c.4076A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Gln1359Pro",
        "hgvsWellDefined": "XP_011538152.1:p.Gln1359Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5813,
          "referenceAllele": "A",
          "start": 5812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.4:c.5231A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Gln1744Pro",
        "hgvsWellDefined": "XP_006717948.1:p.Gln1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5810,
          "referenceAllele": "A",
          "start": 5809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.4:c.5228A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Gln1743Pro",
        "hgvsWellDefined": "XP_006717951.1:p.Gln1743Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5765,
          "referenceAllele": "A",
          "start": 5764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.4:c.5183A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Gln1728Pro",
        "hgvsWellDefined": "XP_006717952.1:p.Gln1728Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4329,
          "referenceAllele": "A",
          "start": 4328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.3:c.4307A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Gln1436Pro",
        "hgvsWellDefined": "XP_006717953.1:p.Gln1436Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6970,
          "referenceAllele": "A",
          "start": 6969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.3:c.5231A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Gln1744Pro",
        "hgvsWellDefined": "XP_011538151.1:p.Gln1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5458,
          "referenceAllele": "A",
          "start": 5457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.3:c.4076A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Gln1359Pro",
        "hgvsWellDefined": "XP_011538152.1:p.Gln1359Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5860,
          "referenceAllele": "A",
          "start": 5859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016310.2:c.5231A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871799.1:p.Gln1744Pro",
        "hgvsWellDefined": "XP_016871799.1:p.Gln1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5813,
          "referenceAllele": "A",
          "start": 5812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016311.2:c.5231A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871800.1:p.Gln1744Pro",
        "hgvsWellDefined": "XP_016871800.1:p.Gln1744Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4239,
          "referenceAllele": "A",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016312.2:c.4217A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871801.1:p.Gln1406Pro",
        "hgvsWellDefined": "XP_016871801.1:p.Gln1406Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5833,
          "referenceAllele": "A",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.2:c.5141A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Gln1714Pro",
        "hgvsWellDefined": "NP_001275918.1:p.Gln1714Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5881,
          "referenceAllele": "A",
          "start": 5880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.4:c.5189A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Gln1730Pro",
        "hgvsWellDefined": "NP_057425.3:p.Gln1730Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5189A>C"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5189A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Gln1730Pro"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Gln1730Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}