{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397842017",
  "communityStandardTitle": [
    "NM_000546.6(TP53):c.476C>T (p.Ala159Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=11148",
        "active": true,
        "id": "COSM11148"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=288919",
        "active": true,
        "id": "COSM288919"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=288920",
        "active": true,
        "id": "COSM288920"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=288921",
        "active": true,
        "id": "COSM288921"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=288922",
        "active": true,
        "id": "COSM288922"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2744893",
        "active": true,
        "id": "COSM2744893"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3388216",
        "active": true,
        "id": "COSM3388216"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=467544[alleleid]",
        "alleleId": 467544,
        "preferredName": "NM_000546.6(TP53):c.476C>T (p.Ala159Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/458545",
        "RCV": [
          "RCV000527533",
          "RCV001764539",
          "RCV002341276",
          "RCV003476227",
          "RCV004023788"
        ],
        "variationId": 458545
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7578454G>A?assembly=hg19",
        "id": "chr17:g.7578454G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7675136G>A?assembly=hg38",
        "id": "chr17:g.7675136G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555526131",
        "rs": 1555526131
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7675136,
          "referenceAllele": "G",
          "start": 7675135
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7675136G>A",
        "CM000679.2:g.7675136G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7578454,
          "referenceAllele": "G",
          "start": 7578453
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7578454G>A",
        "CM000679.1:g.7578454G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7519179,
          "referenceAllele": "G",
          "start": 7519178
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7519179G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17415,
          "referenceAllele": "C",
          "start": 17414
        }
      ],
      "hgvs": [
        "NG_017013.2:g.17415C>T",
        "LRG_321:g.17415C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003369"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000503591.2:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426252.2:p.Ala159Val",
        "hgvsWellDefined": "ENSP00000426252.2:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000508793.6:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424104.2:p.Ala159Val",
        "hgvsWellDefined": "ENSP00000424104.2:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000509690.6:c.80C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425104.2:p.Ala27Val",
        "hgvsWellDefined": "ENSP00000425104.2:p.Ala27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000514944.6:c.197C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423862.2:p.Ala66Val",
        "hgvsWellDefined": "ENSP00000423862.2:p.Ala66Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "referenceAllele": "C",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000604348.6:c.455C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473895.2:p.Ala152Val",
        "hgvsWellDefined": "ENSP00000473895.2:p.Ala152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000269305.9:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269305.4:p.Ala159Val",
        "hgvsWellDefined": "ENSP00000269305.4:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743105",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269305.9:c.476C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000546.6:c.476C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269305.4:p.Ala159Val"
          },
          "RefSeq": {
            "hgvs": "NP_000537.3:p.Ala159Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000269305.8:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269305.4:p.Ala159Val",
        "hgvsWellDefined": "ENSP00000269305.4:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000359597.8:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352610.4:p.Ala159Val",
        "hgvsWellDefined": "ENSP00000352610.4:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000413465.6:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410739.2:p.Ala159Val",
        "hgvsWellDefined": "ENSP00000410739.2:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000420246.6:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391127.2:p.Ala159Val",
        "hgvsWellDefined": "ENSP00000391127.2:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000445888.6:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391478.2:p.Ala159Val",
        "hgvsWellDefined": "ENSP00000391478.2:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000455263.6:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398846.2:p.Ala159Val",
        "hgvsWellDefined": "ENSP00000398846.2:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000504290.5:c.80C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484409.1:p.Ala27Val",
        "hgvsWellDefined": "ENSP00000484409.1:p.Ala27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000504937.5:c.80C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481179.1:p.Ala27Val",
        "hgvsWellDefined": "ENSP00000481179.1:p.Ala27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000505014.5:n.732C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000508793.5:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424104.1:p.Ala159Val",
        "hgvsWellDefined": "ENSP00000424104.1:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000509690.5:c.80C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425104.1:p.Ala27Val",
        "hgvsWellDefined": "ENSP00000425104.1:p.Ala27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000510385.5:c.80C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478499.1:p.Ala27Val",
        "hgvsWellDefined": "ENSP00000478499.1:p.Ala27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000514944.5:c.197C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423862.1:p.Ala66Val",
        "hgvsWellDefined": "ENSP00000423862.1:p.Ala66Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000610292.4:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478219.1:p.Ala120Val",
        "hgvsWellDefined": "ENSP00000478219.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000610538.4:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480868.1:p.Ala120Val",
        "hgvsWellDefined": "ENSP00000480868.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000610623.4:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477531.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "referenceAllele": "C",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000615910.4:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482903.1:p.Ala148Val",
        "hgvsWellDefined": "ENSP00000482903.1:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000617185.4:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482258.1:p.Ala159Val",
        "hgvsWellDefined": "ENSP00000482258.1:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000618944.4:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481401.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000619186.4:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484375.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000619485.4:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482537.1:p.Ala120Val",
        "hgvsWellDefined": "ENSP00000482537.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000620739.4:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481638.1:p.Ala120Val",
        "hgvsWellDefined": "ENSP00000481638.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000622645.4:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482222.1:p.Ala120Val",
        "hgvsWellDefined": "ENSP00000482222.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000635293.1:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488924.1:p.Ala120Val",
        "hgvsWellDefined": "ENSP00000488924.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579936104",
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_000546.5:c.476C>T",
        "LRG_321t1:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000537.3:p.Ala159Val",
        "hgvsWellDefined": "NP_000537.3:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825599834",
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126112.2:c.476C>T",
        "LRG_321t2:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119584.1:p.Ala159Val",
        "hgvsWellDefined": "NP_001119584.1:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825603927",
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126113.2:c.476C>T",
        "LRG_321t4:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119585.1:p.Ala159Val",
        "hgvsWellDefined": "NP_001119585.1:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825607393",
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126114.2:c.476C>T",
        "LRG_321t3:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119586.1:p.Ala159Val",
        "hgvsWellDefined": "NP_001119586.1:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825609837",
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126115.1:c.80C>T",
        "LRG_321t5:c.80C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119587.1:p.Ala27Val",
        "hgvsWellDefined": "NP_001119587.1:p.Ala27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011493"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825612632",
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126116.1:c.80C>T",
        "LRG_321t6:c.80C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119588.1:p.Ala27Val",
        "hgvsWellDefined": "NP_001119588.1:p.Ala27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658679493",
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126117.1:c.80C>T",
        "LRG_321t7:c.80C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119589.1:p.Ala27Val",
        "hgvsWellDefined": "NP_001119589.1:p.Ala27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011495"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825617606",
      "coordinates": [
        {
          "allele": "T",
          "end": 795,
          "referenceAllele": "C",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126118.1:c.359C>T",
        "LRG_321t8:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119590.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001119590.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826559456",
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276695.1:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263624.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263624.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020927"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826560918",
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276696.1:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263625.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263625.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276697.1:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263626.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276698.1:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263627.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276699.1:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263628.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826565309",
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276760.1:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263689.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263689.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826566823",
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276761.1:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263690.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263690.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826559456",
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276695.2:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263624.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263624.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826560918",
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276696.2:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263625.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263625.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276697.2:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263626.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276698.2:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263627.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276699.2:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263628.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826565309",
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276760.2:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263689.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263689.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826566823",
      "coordinates": [
        {
          "allele": "T",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276761.2:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263690.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263690.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579936104",
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_000546.6:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000537.3:p.Ala159Val",
        "hgvsWellDefined": "NP_000537.3:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269305.9:c.476C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000546.6:c.476C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269305.4:p.Ala159Val"
          },
          "RefSeq": {
            "hgvs": "NP_000537.3:p.Ala159Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825599834",
      "coordinates": [
        {
          "allele": "T",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126112.3:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119584.1:p.Ala159Val",
        "hgvsWellDefined": "NP_001119584.1:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825603927",
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126113.3:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119585.1:p.Ala159Val",
        "hgvsWellDefined": "NP_001119585.1:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825607393",
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126114.3:c.476C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119586.1:p.Ala159Val",
        "hgvsWellDefined": "NP_001119586.1:p.Ala159Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825609837",
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126115.2:c.80C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119587.1:p.Ala27Val",
        "hgvsWellDefined": "NP_001119587.1:p.Ala27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825612632",
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126116.2:c.80C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119588.1:p.Ala27Val",
        "hgvsWellDefined": "NP_001119588.1:p.Ala27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658679493",
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126117.2:c.80C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119589.1:p.Ala27Val",
        "hgvsWellDefined": "NP_001119589.1:p.Ala27Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825617606",
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126118.2:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119590.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001119590.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826559456",
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276695.3:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263624.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263624.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826560918",
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276696.3:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263625.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263625.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276697.3:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263626.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276698.3:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263627.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276699.3:c.-2C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263628.1:n.-2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826565309",
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276760.3:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263689.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263689.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826566823",
      "coordinates": [
        {
          "allele": "T",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276761.3:c.359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263690.1:p.Ala120Val",
        "hgvsWellDefined": "NP_001263690.1:p.Ala120Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715417"
    }
  ],
  "type": "nucleotide"
}