{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1928998367",
  "communityStandardTitle": [
    "NM_016341.4(PLCE1):c.5175T= (p.Cys1725=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752359550",
        "rs": 752359550
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 94298386,
          "referenceAllele": "T",
          "start": 94298385
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94298386T=",
        "CM000672.2:g.94298386T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 96058143,
          "referenceAllele": "T",
          "start": 96058142
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96058143T=",
        "CM000672.1:g.96058143T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 96048133,
          "referenceAllele": "T",
          "start": 96048132
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96048133T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309398,
          "referenceAllele": "T",
          "start": 309397
        }
      ],
      "hgvs": [
        "NG_015799.1:g.309398T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002831"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4251,
          "referenceAllele": "T",
          "start": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.2:c.4251T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Cys1417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5462,
          "referenceAllele": "T",
          "start": 5461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685253.1:c.*1718T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509405.1:n.*1718T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "T",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685889.1:n.1910T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "referenceAllele": "T",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686807.1:n.594T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5652,
          "referenceAllele": "T",
          "start": 5651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686954.1:c.*459T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508416.1:n.*459T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4203,
          "referenceAllele": "T",
          "start": 4202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000688810.1:c.4203T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509140.1:p.Cys1401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9383,
          "referenceAllele": "T",
          "start": 9382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000689233.1:n.9383T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2848,
          "referenceAllele": "T",
          "start": 2847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000690340.1:n.2848T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5373,
          "referenceAllele": "T",
          "start": 5372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692286.1:c.5043T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509490.1:p.Cys1681="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5716,
          "referenceAllele": "T",
          "start": 5715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692396.1:c.5127T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508605.1:p.Cys1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5867,
          "referenceAllele": "T",
          "start": 5866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.8:c.5175T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Cys1725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5175T="
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5175T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Cys1725="
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Cys1725="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4204,
          "referenceAllele": "T",
          "start": 4203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.8:c.4149T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.4:p.Cys1383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3730,
          "referenceAllele": "T",
          "start": 3729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674738.1:c.3730T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3291,
          "referenceAllele": "T",
          "start": 3290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674827.1:c.3291T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502523.1:p.Cys1097="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4251,
          "referenceAllele": "T",
          "start": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675218.1:c.4251T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501910.1:p.Cys1417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5408,
          "referenceAllele": "T",
          "start": 5407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675487.1:c.*1108T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502340.1:n.*1108T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4444,
          "referenceAllele": "T",
          "start": 4443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675718.1:c.4444T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4075,
          "referenceAllele": "T",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000676102.1:c.4020T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502811.1:p.Cys1340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5809,
          "referenceAllele": "T",
          "start": 5808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000260766.7:c.5175T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260766.3:p.Cys1725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4251,
          "referenceAllele": "T",
          "start": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.1:c.4251T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Cys1417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5410,
          "referenceAllele": "T",
          "start": 5409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.7:c.5175T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Cys1725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4320,
          "referenceAllele": "T",
          "start": 4319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.7:c.4251T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.3:p.Cys1417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826015702",
      "coordinates": [
        {
          "allele": "T",
          "end": 4320,
          "referenceAllele": "T",
          "start": 4319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001165979.2:c.4251T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159451.1:p.Cys1417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826749215",
      "coordinates": [
        {
          "allele": "T",
          "end": 5761,
          "referenceAllele": "T",
          "start": 5760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.1:c.5127T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Cys1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829863764",
      "coordinates": [
        {
          "allele": "T",
          "end": 5809,
          "referenceAllele": "T",
          "start": 5808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.3:c.5175T="
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Cys1725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5801,
          "referenceAllele": "T",
          "start": 5800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.2:c.5217T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Cys1739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5801,
          "referenceAllele": "T",
          "start": 5800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717886.2:c.5217T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717949.1:p.Cys1739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5798,
          "referenceAllele": "T",
          "start": 5797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.2:c.5214T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Cys1738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5753,
          "referenceAllele": "T",
          "start": 5752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.2:c.5169T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Cys1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4315,
          "referenceAllele": "T",
          "start": 4314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.1:c.4293T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Cys1431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5600,
          "referenceAllele": "T",
          "start": 5599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.1:c.5217T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Cys1739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4097,
          "referenceAllele": "T",
          "start": 4096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.1:c.4062T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Cys1354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5799,
          "referenceAllele": "T",
          "start": 5798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.4:c.5217T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Cys1739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5796,
          "referenceAllele": "T",
          "start": 5795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.4:c.5214T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Cys1738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5751,
          "referenceAllele": "T",
          "start": 5750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.4:c.5169T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Cys1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4315,
          "referenceAllele": "T",
          "start": 4314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.3:c.4293T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Cys1431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6956,
          "referenceAllele": "T",
          "start": 6955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.3:c.5217T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Cys1739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5444,
          "referenceAllele": "T",
          "start": 5443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.3:c.4062T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Cys1354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5846,
          "referenceAllele": "T",
          "start": 5845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016310.2:c.5217T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016871799.1:p.Cys1739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5799,
          "referenceAllele": "T",
          "start": 5798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016311.2:c.5217T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016871800.1:p.Cys1739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4225,
          "referenceAllele": "T",
          "start": 4224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016312.2:c.4203T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016871801.1:p.Cys1401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826749215",
      "coordinates": [
        {
          "allele": "T",
          "end": 5819,
          "referenceAllele": "T",
          "start": 5818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.2:c.5127T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Cys1709="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829863764",
      "coordinates": [
        {
          "allele": "T",
          "end": 5867,
          "referenceAllele": "T",
          "start": 5866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.4:c.5175T="
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Cys1725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5175T="
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5175T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Cys1725="
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Cys1725="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}