{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA000468",
  "communityStandardTitle": [
    "NM_000546.6(TP53):c.869G>A (p.Arg290His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=44017",
        "active": true,
        "id": "COSM44017"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1386594",
        "active": true,
        "id": "COSM1386594"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4340368",
        "active": true,
        "id": "COSM4340368"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4340369",
        "active": true,
        "id": "COSM4340369"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133282[alleleid]",
        "alleleId": 133282,
        "preferredName": "NM_000546.6(TP53):c.869G>A (p.Arg290His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127825",
        "RCV": [
          "RCV000115740",
          "RCV000148914",
          "RCV000213061",
          "RCV001357075",
          "RCV001798340",
          "RCV000620742",
          "RCV003935102",
          "RCV000760102"
        ],
        "variationId": 127825
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-7577069-C-T",
        "id": "17-7577069-C-T",
        "variant": "17:7577069 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7577069C>T?assembly=hg19",
        "id": "chr17:g.7577069C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7673751C>T?assembly=hg38",
        "id": "chr17:g.7673751C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/55819519",
        "rs": 55819519
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7577069-C-T?dataset=gnomad_r2_1",
        "id": "17-7577069-C-T",
        "variant": "17:7577069 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7673751-C-T?dataset=gnomad_r3",
        "id": "17-7673751-C-T",
        "variant": "17:7673751 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7673751-C-T?dataset=gnomad_r4",
        "id": "17-7673751-C-T",
        "variant": "17:7673751 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7673751,
          "referenceAllele": "C",
          "start": 7673750
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7673751C>T",
        "CM000679.2:g.7673751C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7577069,
          "referenceAllele": "C",
          "start": 7577068
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7577069C>T",
        "CM000679.1:g.7577069C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7517794,
          "referenceAllele": "C",
          "start": 7517793
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7517794C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18800,
          "referenceAllele": "G",
          "start": 18799
        }
      ],
      "hgvs": [
        "NG_017013.2:g.18800G>A",
        "LRG_321:g.18800G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003369"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "referenceAllele": "G",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000503591.2:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426252.2:p.Arg290His",
        "hgvsWellDefined": "ENSP00000426252.2:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000508793.6:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424104.2:p.Arg290His",
        "hgvsWellDefined": "ENSP00000424104.2:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000509690.6:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425104.2:p.Arg158His",
        "hgvsWellDefined": "ENSP00000425104.2:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 669,
          "referenceAllele": "G",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000514944.6:c.590G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423862.2:p.Arg197His",
        "hgvsWellDefined": "ENSP00000423862.2:p.Arg197His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000604348.6:c.848G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473895.2:p.Arg283His",
        "hgvsWellDefined": "ENSP00000473895.2:p.Arg283His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000269305.9:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269305.4:p.Arg290His",
        "hgvsWellDefined": "ENSP00000269305.4:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743105",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269305.9:c.869G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000546.6:c.869G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269305.4:p.Arg290His"
          },
          "RefSeq": {
            "hgvs": "NP_000537.3:p.Arg290His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "referenceAllele": "G",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000269305.8:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269305.4:p.Arg290His",
        "hgvsWellDefined": "ENSP00000269305.4:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000359597.8:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352610.4:p.Arg290His",
        "hgvsWellDefined": "ENSP00000352610.4:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "endIntronDirection": "+",
          "endIntronOffset": 430,
          "referenceAllele": "G",
          "start": 782,
          "startIntronDirection": "+",
          "startIntronOffset": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000413465.6:c.782+430G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410739.2:n.782+430G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000420246.6:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391127.2:p.Arg290His",
        "hgvsWellDefined": "ENSP00000391127.2:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000445888.6:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391478.2:p.Arg290His",
        "hgvsWellDefined": "ENSP00000391478.2:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000455263.6:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398846.2:p.Arg290His",
        "hgvsWellDefined": "ENSP00000398846.2:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000504290.5:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484409.1:p.Arg158His",
        "hgvsWellDefined": "ENSP00000484409.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000504937.5:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481179.1:p.Arg158His",
        "hgvsWellDefined": "ENSP00000481179.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000509690.5:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425104.1:p.Arg158His",
        "hgvsWellDefined": "ENSP00000425104.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000510385.5:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478499.1:p.Arg158His",
        "hgvsWellDefined": "ENSP00000478499.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000610292.4:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478219.1:p.Arg251His",
        "hgvsWellDefined": "ENSP00000478219.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000610538.4:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480868.1:p.Arg251His",
        "hgvsWellDefined": "ENSP00000480868.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000610623.4:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477531.1:p.Arg131His",
        "hgvsWellDefined": "ENSP00000477531.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 836,
          "referenceAllele": "G",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000615910.4:c.836G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482903.1:p.Arg279His",
        "hgvsWellDefined": "ENSP00000482903.1:p.Arg279His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000617185.4:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482258.1:p.Arg290His",
        "hgvsWellDefined": "ENSP00000482258.1:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000618944.4:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481401.1:p.Arg131His",
        "hgvsWellDefined": "ENSP00000481401.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000619186.4:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484375.1:p.Arg131His",
        "hgvsWellDefined": "ENSP00000484375.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000619485.4:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482537.1:p.Arg251His",
        "hgvsWellDefined": "ENSP00000482537.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "referenceAllele": "G",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000620739.4:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481638.1:p.Arg251His",
        "hgvsWellDefined": "ENSP00000481638.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000622645.4:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482222.1:p.Arg251His",
        "hgvsWellDefined": "ENSP00000482222.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "ENST00000635293.1:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488924.1:p.Arg251His",
        "hgvsWellDefined": "ENSP00000488924.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106801",
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_000546.5:c.869G>A",
        "LRG_321t1:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000537.3:p.Arg290His",
        "hgvsWellDefined": "NP_000537.3:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126112.2:c.869G>A",
        "LRG_321t2:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119584.1:p.Arg290His",
        "hgvsWellDefined": "NP_001119584.1:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277487",
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126113.2:c.869G>A",
        "LRG_321t4:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119585.1:p.Arg290His",
        "hgvsWellDefined": "NP_001119585.1:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277488",
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126114.2:c.869G>A",
        "LRG_321t3:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119586.1:p.Arg290His",
        "hgvsWellDefined": "NP_001119586.1:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277482",
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126115.1:c.473G>A",
        "LRG_321t5:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119587.1:p.Arg158His",
        "hgvsWellDefined": "NP_001119587.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011493"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277483",
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126116.1:c.473G>A",
        "LRG_321t6:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119588.1:p.Arg158His",
        "hgvsWellDefined": "NP_001119588.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277484",
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126117.1:c.473G>A",
        "LRG_321t7:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119589.1:p.Arg158His",
        "hgvsWellDefined": "NP_001119589.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011495"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277485",
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126118.1:c.752G>A",
        "LRG_321t8:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119590.1:p.Arg251His",
        "hgvsWellDefined": "NP_001119590.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826560210",
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276695.1:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263624.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263624.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020927"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826561665",
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276696.1:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263625.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263625.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826562578",
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276697.1:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263626.1:p.Arg131His",
        "hgvsWellDefined": "NP_001263626.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826563699",
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276698.1:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263627.1:p.Arg131His",
        "hgvsWellDefined": "NP_001263627.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826564406",
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276699.1:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263628.1:p.Arg131His",
        "hgvsWellDefined": "NP_001263628.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826566054",
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276760.1:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263689.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263689.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826567575",
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276761.1:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263690.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263690.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826560210",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276695.2:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263624.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263624.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826561665",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276696.2:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263625.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263625.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826562578",
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276697.2:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263626.1:p.Arg131His",
        "hgvsWellDefined": "NP_001263626.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826563699",
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276698.2:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263627.1:p.Arg131His",
        "hgvsWellDefined": "NP_001263627.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826564406",
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276699.2:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263628.1:p.Arg131His",
        "hgvsWellDefined": "NP_001263628.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826566054",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276760.2:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263689.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263689.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826567575",
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276761.2:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263690.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263690.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106801",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_000546.6:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000537.3:p.Arg290His",
        "hgvsWellDefined": "NP_000537.3:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269305.9:c.869G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000546.6:c.869G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269305.4:p.Arg290His"
          },
          "RefSeq": {
            "hgvs": "NP_000537.3:p.Arg290His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA277486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126112.3:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119584.1:p.Arg290His",
        "hgvsWellDefined": "NP_001119584.1:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277487",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126113.3:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119585.1:p.Arg290His",
        "hgvsWellDefined": "NP_001119585.1:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277488",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126114.3:c.869G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119586.1:p.Arg290His",
        "hgvsWellDefined": "NP_001119586.1:p.Arg290His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277482",
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126115.2:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119587.1:p.Arg158His",
        "hgvsWellDefined": "NP_001119587.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277483",
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126116.2:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119588.1:p.Arg158His",
        "hgvsWellDefined": "NP_001119588.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277484",
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126117.2:c.473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119589.1:p.Arg158His",
        "hgvsWellDefined": "NP_001119589.1:p.Arg158His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277485",
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001126118.2:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119590.1:p.Arg251His",
        "hgvsWellDefined": "NP_001119590.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826560210",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276695.3:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263624.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263624.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826561665",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276696.3:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263625.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263625.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715406"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826562578",
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276697.3:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263626.1:p.Arg131His",
        "hgvsWellDefined": "NP_001263626.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715407"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826563699",
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276698.3:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263627.1:p.Arg131His",
        "hgvsWellDefined": "NP_001263627.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826564406",
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276699.3:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263628.1:p.Arg131His",
        "hgvsWellDefined": "NP_001263628.1:p.Arg131His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826566054",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276760.3:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263689.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263689.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826567575",
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011998",
      "geneNCBI_id": 7157,
      "geneSymbol": "TP53",
      "hgvs": [
        "NM_001276761.3:c.752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263690.1:p.Arg251His",
        "hgvsWellDefined": "NP_001263690.1:p.Arg251His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715417"
    }
  ],
  "type": "nucleotide"
}