{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA000021",
  "communityStandardTitle": [
    "NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=44070",
        "active": true,
        "id": "COSM44070"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4967385",
        "active": true,
        "id": "COSM4967385"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27414[alleleid]",
        "alleleId": 27414,
        "preferredName": "NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12375",
        "RCV": [
          "RCV000013174",
          "RCV000991141",
          "RCV002390102",
          "RCV003473083",
          "RCV003996091"
        ],
        "variationId": 12375
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7573996A>G?assembly=hg19",
        "id": "chr17:g.7573996A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7670678A>G?assembly=hg38",
        "id": "chr17:g.7670678A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912662",
        "rs": 121912662
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7670678-A-G?dataset=gnomad_r4",
        "id": "17-7670678-A-G",
        "variant": "17:7670678 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 7670678,
          "referenceAllele": "A",
          "start": 7670677
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7670678A>G",
        "CM000679.2:g.7670678A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 7573996,
          "referenceAllele": "A",
          "start": 7573995
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7573996A>G",
        "CM000679.1:g.7573996A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 7514721,
          "referenceAllele": "A",
          "start": 7514720
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7514721A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21873,
          "referenceAllele": "T",
          "start": 21872
        }
      ],
      "hgvs": [
        "NG_017013.2:g.21873T>C",
        "LRG_321:g.21873T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003369"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1213,
          "referenceAllele": "T",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000503591.2:c.1031T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426252.2:p.Leu344Pro",
        "hgvsWellDefined": "ENSP00000426252.2:p.Leu344Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1313,
          "referenceAllele": "T",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000508793.6:c.1031T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424104.2:p.Leu344Pro",
        "hgvsWellDefined": "ENSP00000424104.2:p.Leu344Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 767,
          "referenceAllele": "T",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000509690.6:c.635T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425104.2:p.Leu212Pro",
        "hgvsWellDefined": "ENSP00000425104.2:p.Leu212Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 831,
          "referenceAllele": "T",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000514944.6:c.752T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423862.2:p.Leu251Pro",
        "hgvsWellDefined": "ENSP00000423862.2:p.Leu251Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1149,
          "referenceAllele": "T",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000604348.6:c.1010T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473895.2:p.Leu337Pro",
        "hgvsWellDefined": "ENSP00000473895.2:p.Leu337Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "T",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000269305.9:c.1031T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269305.4:p.Leu344Pro",
        "hgvsWellDefined": "ENSP00000269305.4:p.Leu344Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743105",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269305.9:c.1031T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000546.6:c.1031T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269305.4:p.Leu344Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000537.3:p.Leu344Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1221,
          "referenceAllele": "T",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000269305.8:c.1031T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269305.4:p.Leu344Pro",
        "hgvsWellDefined": "ENSP00000269305.4:p.Leu344Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "endIntronDirection": "+",
          "endIntronOffset": 2857,
          "referenceAllele": "T",
          "start": 993,
          "startIntronDirection": "+",
          "startIntronOffset": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000359597.8:c.993+2857T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352610.4:n.993+2857T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "endIntronDirection": "+",
          "endIntronOffset": 3503,
          "referenceAllele": "T",
          "start": 782,
          "startIntronDirection": "+",
          "startIntronOffset": 3502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000413465.6:c.782+3503T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410739.2:n.782+3503T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247363"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1297,
          "referenceAllele": "T",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000420246.6:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391127.2:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "T",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000445888.6:c.1031T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391478.2:p.Leu344Pro",
        "hgvsWellDefined": "ENSP00000391478.2:p.Leu344Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1224,
          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000455263.6:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398846.2:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 973,
          "referenceAllele": "T",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000504290.5:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484409.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "T",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000504937.5:c.635T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481179.1:p.Leu212Pro",
        "hgvsWellDefined": "ENSP00000481179.1:p.Leu212Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336854"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1046,
          "referenceAllele": "T",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000510385.5:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478499.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 53,
          "endIntronDirection": "-",
          "endIntronOffset": 987,
          "referenceAllele": "T",
          "start": 53,
          "startIntronDirection": "-",
          "startIntronOffset": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000576024.1:c.54-988T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "referenceAllele": "T",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000610292.4:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478219.1:p.Leu305Pro",
        "hgvsWellDefined": "ENSP00000478219.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1224,
          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000610538.4:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480868.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400464"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 973,
          "referenceAllele": "T",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000610623.4:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477531.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 998,
          "referenceAllele": "T",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000615910.4:c.998T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482903.1:p.Leu333Pro",
        "hgvsWellDefined": "ENSP00000482903.1:p.Leu333Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402821"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1366,
          "referenceAllele": "T",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000617185.4:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482258.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1046,
          "referenceAllele": "T",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000618944.4:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481401.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "T",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000619186.4:c.554T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484375.1:p.Leu185Pro",
        "hgvsWellDefined": "ENSP00000484375.1:p.Leu185Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "T",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000619485.4:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482537.1:p.Leu305Pro",
        "hgvsWellDefined": "ENSP00000482537.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1221,
          "referenceAllele": "T",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000620739.4:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481638.1:p.Leu305Pro",
        "hgvsWellDefined": "ENSP00000481638.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1297,
          "referenceAllele": "T",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000622645.4:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482222.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1174,
          "referenceAllele": "T",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000635293.1:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488924.1:p.Leu305Pro",
        "hgvsWellDefined": "ENSP00000488924.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107109",
      "coordinates": [
        {
          "allele": "C",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_000546.5:c.1031T>C",
        "LRG_321t1:c.1031T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000537.3:p.Leu344Pro",
        "hgvsWellDefined": "NP_000537.3:p.Leu344Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256395",
      "coordinates": [
        {
          "allele": "C",
          "end": 1230,
          "referenceAllele": "T",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126112.2:c.1031T>C",
        "LRG_321t2:c.1031T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119584.1:p.Leu344Pro",
        "hgvsWellDefined": "NP_001119584.1:p.Leu344Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1293,
          "referenceAllele": "T",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126113.2:c.*50T>C",
        "LRG_321t4:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119585.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1366,
          "referenceAllele": "T",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126114.2:c.*138T>C",
        "LRG_321t3:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119586.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256393",
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "T",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126115.1:c.635T>C",
        "LRG_321t5:c.635T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119587.1:p.Leu212Pro",
        "hgvsWellDefined": "NP_001119587.1:p.Leu212Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1046,
          "referenceAllele": "T",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126116.1:c.*138T>C",
        "LRG_321t6:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119588.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 973,
          "referenceAllele": "T",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126117.1:c.*50T>C",
        "LRG_321t7:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119589.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011495"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256394",
      "coordinates": [
        {
          "allele": "C",
          "end": 1350,
          "referenceAllele": "T",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126118.1:c.914T>C",
        "LRG_321t8:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119590.1:p.Leu305Pro",
        "hgvsWellDefined": "NP_001119590.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1293,
          "referenceAllele": "T",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276695.1:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263624.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1366,
          "referenceAllele": "T",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276696.1:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263625.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826562780",
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "T",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276697.1:c.554T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263626.1:p.Leu185Pro",
        "hgvsWellDefined": "NP_001263626.1:p.Leu185Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1046,
          "referenceAllele": "T",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276698.1:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263627.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 973,
          "referenceAllele": "T",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276699.1:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263628.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826566260",
      "coordinates": [
        {
          "allele": "C",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276760.1:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263689.1:p.Leu305Pro",
        "hgvsWellDefined": "NP_001263689.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826567776",
      "coordinates": [
        {
          "allele": "C",
          "end": 1230,
          "referenceAllele": "T",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276761.1:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263690.1:p.Leu305Pro",
        "hgvsWellDefined": "NP_001263690.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276695.2:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263624.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "referenceAllele": "T",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276696.2:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263625.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826562780",
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "referenceAllele": "T",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276697.2:c.554T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263626.1:p.Leu185Pro",
        "hgvsWellDefined": "NP_001263626.1:p.Leu185Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "T",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276698.2:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263627.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681334"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "T",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276699.2:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263628.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826566260",
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "T",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276760.2:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263689.1:p.Leu305Pro",
        "hgvsWellDefined": "NP_001263689.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826567776",
      "coordinates": [
        {
          "allele": "C",
          "end": 1170,
          "referenceAllele": "T",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276761.2:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263690.1:p.Leu305Pro",
        "hgvsWellDefined": "NP_001263690.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107109",
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "T",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_000546.6:c.1031T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000537.3:p.Leu344Pro",
        "hgvsWellDefined": "NP_000537.3:p.Leu344Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269305.9:c.1031T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000546.6:c.1031T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269305.4:p.Leu344Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000537.3:p.Leu344Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA256395",
      "coordinates": [
        {
          "allele": "C",
          "end": 1170,
          "referenceAllele": "T",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126112.3:c.1031T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119584.1:p.Leu344Pro",
        "hgvsWellDefined": "NP_001119584.1:p.Leu344Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126113.3:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119585.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "referenceAllele": "T",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126114.3:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119586.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256393",
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "referenceAllele": "T",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126115.2:c.635T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119587.1:p.Leu212Pro",
        "hgvsWellDefined": "NP_001119587.1:p.Leu212Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "T",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126116.2:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119588.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712180"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "T",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126117.2:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119589.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256394",
      "coordinates": [
        {
          "allele": "C",
          "end": 1290,
          "referenceAllele": "T",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126118.2:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119590.1:p.Leu305Pro",
        "hgvsWellDefined": "NP_001119590.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276695.3:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263624.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "referenceAllele": "T",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276696.3:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263625.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715406"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826562780",
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "referenceAllele": "T",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276697.3:c.554T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263626.1:p.Leu185Pro",
        "hgvsWellDefined": "NP_001263626.1:p.Leu185Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "T",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276698.3:c.*138T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263627.1:n.*138T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "T",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276699.3:c.*50T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263628.1:n.*50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826566260",
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "T",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276760.3:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263689.1:p.Leu305Pro",
        "hgvsWellDefined": "NP_001263689.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826567776",
      "coordinates": [
        {
          "allele": "C",
          "end": 1170,
          "referenceAllele": "T",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276761.3:c.914T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263690.1:p.Leu305Pro",
        "hgvsWellDefined": "NP_001263690.1:p.Leu305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715417"
    }
  ],
  "type": "nucleotide"
}