{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377641732",
  "communityStandardTitle": [
    "NM_016341.4(PLCE1):c.5204C>T (p.Ser1735Phe)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.96058172C>T?assembly=hg19",
        "id": "chr10:g.96058172C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94298415C>T?assembly=hg38",
        "id": "chr10:g.94298415C>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 94298415,
          "referenceAllele": "C",
          "start": 94298414
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94298415C>T",
        "CM000672.2:g.94298415C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 96058172,
          "referenceAllele": "C",
          "start": 96058171
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96058172C>T",
        "CM000672.1:g.96058172C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 96048162,
          "referenceAllele": "C",
          "start": 96048161
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96048162C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309427,
          "referenceAllele": "C",
          "start": 309426
        }
      ],
      "hgvs": [
        "NG_015799.1:g.309427C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002831"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4280,
          "referenceAllele": "C",
          "start": 4279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.2:c.4280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Ser1427Phe",
        "hgvsWellDefined": "ENSP00000360426.1:p.Ser1427Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5491,
          "referenceAllele": "C",
          "start": 5490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685253.1:c.*1747C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509405.1:n.*1747C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1939,
          "referenceAllele": "C",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685889.1:n.1939C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686807.1:n.623C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5681,
          "referenceAllele": "C",
          "start": 5680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686954.1:c.*488C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508416.1:n.*488C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4232,
          "referenceAllele": "C",
          "start": 4231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000688810.1:c.4232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509140.1:p.Ser1411Phe",
        "hgvsWellDefined": "ENSP00000509140.1:p.Ser1411Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9412,
          "referenceAllele": "C",
          "start": 9411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000689233.1:n.9412C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2877,
          "referenceAllele": "C",
          "start": 2876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000690340.1:n.2877C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5402,
          "referenceAllele": "C",
          "start": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692286.1:c.5072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509490.1:p.Ser1691Phe",
        "hgvsWellDefined": "ENSP00000509490.1:p.Ser1691Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5745,
          "referenceAllele": "C",
          "start": 5744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692396.1:c.5156C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508605.1:p.Ser1719Phe",
        "hgvsWellDefined": "ENSP00000508605.1:p.Ser1719Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5896,
          "referenceAllele": "C",
          "start": 5895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.8:c.5204C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Ser1735Phe",
        "hgvsWellDefined": "ENSP00000360431.2:p.Ser1735Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5204C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5204C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Ser1735Phe"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Ser1735Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4233,
          "referenceAllele": "C",
          "start": 4232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.8:c.4178C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.4:p.Ser1393Phe",
        "hgvsWellDefined": "ENSP00000360438.4:p.Ser1393Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3759,
          "referenceAllele": "C",
          "start": 3758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674738.1:c.3759C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3320,
          "referenceAllele": "C",
          "start": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674827.1:c.3320C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502523.1:p.Ser1107Phe",
        "hgvsWellDefined": "ENSP00000502523.1:p.Ser1107Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4280,
          "referenceAllele": "C",
          "start": 4279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675218.1:c.4280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501910.1:p.Ser1427Phe",
        "hgvsWellDefined": "ENSP00000501910.1:p.Ser1427Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5437,
          "referenceAllele": "C",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675487.1:c.*1137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502340.1:n.*1137C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4473,
          "referenceAllele": "C",
          "start": 4472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675718.1:c.4473C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4104,
          "referenceAllele": "C",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000676102.1:c.4049C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502811.1:p.Ser1350Phe",
        "hgvsWellDefined": "ENSP00000502811.1:p.Ser1350Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5838,
          "referenceAllele": "C",
          "start": 5837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000260766.7:c.5204C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260766.3:p.Ser1735Phe",
        "hgvsWellDefined": "ENSP00000260766.3:p.Ser1735Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4280,
          "referenceAllele": "C",
          "start": 4279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.1:c.4280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Ser1427Phe",
        "hgvsWellDefined": "ENSP00000360426.1:p.Ser1427Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5439,
          "referenceAllele": "C",
          "start": 5438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.7:c.5204C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Ser1735Phe",
        "hgvsWellDefined": "ENSP00000360431.2:p.Ser1735Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4349,
          "referenceAllele": "C",
          "start": 4348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.7:c.4280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.3:p.Ser1427Phe",
        "hgvsWellDefined": "ENSP00000360438.3:p.Ser1427Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4349,
          "referenceAllele": "C",
          "start": 4348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001165979.2:c.4280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159451.1:p.Ser1427Phe",
        "hgvsWellDefined": "NP_001159451.1:p.Ser1427Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5790,
          "referenceAllele": "C",
          "start": 5789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.1:c.5156C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Ser1719Phe",
        "hgvsWellDefined": "NP_001275918.1:p.Ser1719Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5838,
          "referenceAllele": "C",
          "start": 5837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.3:c.5204C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Ser1735Phe",
        "hgvsWellDefined": "NP_057425.3:p.Ser1735Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5830,
          "referenceAllele": "C",
          "start": 5829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.2:c.5246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Ser1749Phe",
        "hgvsWellDefined": "XP_006717948.1:p.Ser1749Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5830,
          "referenceAllele": "C",
          "start": 5829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717886.2:c.5246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717949.1:p.Ser1749Phe",
        "hgvsWellDefined": "XP_006717949.1:p.Ser1749Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5827,
          "referenceAllele": "C",
          "start": 5826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.2:c.5243C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Ser1748Phe",
        "hgvsWellDefined": "XP_006717951.1:p.Ser1748Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5782,
          "referenceAllele": "C",
          "start": 5781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.2:c.5198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Ser1733Phe",
        "hgvsWellDefined": "XP_006717952.1:p.Ser1733Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4344,
          "referenceAllele": "C",
          "start": 4343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.1:c.4322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Ser1441Phe",
        "hgvsWellDefined": "XP_006717953.1:p.Ser1441Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5629,
          "referenceAllele": "C",
          "start": 5628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.1:c.5246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Ser1749Phe",
        "hgvsWellDefined": "XP_011538151.1:p.Ser1749Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4126,
          "referenceAllele": "C",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.1:c.4091C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Ser1364Phe",
        "hgvsWellDefined": "XP_011538152.1:p.Ser1364Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5828,
          "referenceAllele": "C",
          "start": 5827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.4:c.5246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Ser1749Phe",
        "hgvsWellDefined": "XP_006717948.1:p.Ser1749Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5825,
          "referenceAllele": "C",
          "start": 5824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.4:c.5243C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Ser1748Phe",
        "hgvsWellDefined": "XP_006717951.1:p.Ser1748Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5780,
          "referenceAllele": "C",
          "start": 5779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.4:c.5198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Ser1733Phe",
        "hgvsWellDefined": "XP_006717952.1:p.Ser1733Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4344,
          "referenceAllele": "C",
          "start": 4343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.3:c.4322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Ser1441Phe",
        "hgvsWellDefined": "XP_006717953.1:p.Ser1441Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6985,
          "referenceAllele": "C",
          "start": 6984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.3:c.5246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Ser1749Phe",
        "hgvsWellDefined": "XP_011538151.1:p.Ser1749Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5473,
          "referenceAllele": "C",
          "start": 5472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.3:c.4091C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Ser1364Phe",
        "hgvsWellDefined": "XP_011538152.1:p.Ser1364Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5875,
          "referenceAllele": "C",
          "start": 5874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016310.2:c.5246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871799.1:p.Ser1749Phe",
        "hgvsWellDefined": "XP_016871799.1:p.Ser1749Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5828,
          "referenceAllele": "C",
          "start": 5827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016311.2:c.5246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871800.1:p.Ser1749Phe",
        "hgvsWellDefined": "XP_016871800.1:p.Ser1749Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4254,
          "referenceAllele": "C",
          "start": 4253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016312.2:c.4232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871801.1:p.Ser1411Phe",
        "hgvsWellDefined": "XP_016871801.1:p.Ser1411Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5848,
          "referenceAllele": "C",
          "start": 5847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.2:c.5156C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Ser1719Phe",
        "hgvsWellDefined": "NP_001275918.1:p.Ser1719Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5896,
          "referenceAllele": "C",
          "start": 5895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.4:c.5204C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Ser1735Phe",
        "hgvsWellDefined": "NP_057425.3:p.Ser1735Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5204C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5204C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Ser1735Phe"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Ser1735Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}