{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123643",
  "communityStandardTitle": [
    "NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=476",
        "active": true,
        "id": "COSM476"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29000[alleleid]",
        "alleleId": 29000,
        "preferredName": "NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13961",
        "RCV": [
          "RCV000014992",
          "RCV000014993",
          "RCV000014994",
          "RCV000022677",
          "RCV000080903",
          "RCV000037936",
          "RCV000067669",
          "RCV000208763",
          "RCV000420614",
          "RCV000425847",
          "RCV000429915",
          "RCV000440802",
          "RCV000425166",
          "RCV000430562",
          "RCV000443745",
          "RCV000433305",
          "RCV000435441",
          "RCV000440540",
          "RCV000443448",
          "RCV000417746",
          "RCV000424470",
          "RCV000432628",
          "RCV000662278",
          "RCV000860020",
          "RCV001030023",
          "RCV001248834",
          "RCV001254874",
          "RCV002051586",
          "RCV004018627",
          "RCV003458334"
        ],
        "variationId": 13961
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-140453136-A-T",
        "id": "7-140453136-A-T",
        "variant": "7:140453136 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.140453136A>T?assembly=hg19",
        "id": "chr7:g.140453136A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.140753336A>T?assembly=hg38",
        "id": "chr7:g.140753336A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113488022",
        "rs": 113488022
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-140453136-A-T?dataset=gnomad_r2_1",
        "id": "7-140453136-A-T",
        "variant": "7:140453136 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-140753336-A-T?dataset=gnomad_r4",
        "id": "7-140753336-A-T",
        "variant": "7:140753336 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 140753336,
          "referenceAllele": "A",
          "start": 140753335
        }
      ],
      "hgvs": [
        "NC_000007.14:g.140753336A>T",
        "CM000669.2:g.140753336A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 140453136,
          "referenceAllele": "A",
          "start": 140453135
        }
      ],
      "hgvs": [
        "NC_000007.13:g.140453136A>T",
        "CM000669.1:g.140453136A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 140099605,
          "referenceAllele": "A",
          "start": 140099604
        }
      ],
      "hgvs": [
        "NC_000007.12:g.140099605A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 176429,
          "referenceAllele": "T",
          "start": 176428
        }
      ],
      "hgvs": [
        "NG_007873.3:g.176429T>A",
        "LRG_299:g.176429T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000682"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2025,
          "referenceAllele": "T",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000646891.2:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493543.1:p.Val600Glu",
        "hgvsWellDefined": "ENSP00000493543.1:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906449",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646891.2:c.1799T>A"
          },
          "RefSeq": {
            "hgvs": "NM_004333.6:c.1799T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493543.1:p.Val600Glu"
          },
          "RefSeq": {
            "hgvs": "NP_004324.2:p.Val600Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1948,
          "referenceAllele": "T",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000288602.11:c.1919T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288602.7:p.Val640Glu",
        "hgvsWellDefined": "ENSP00000288602.7:p.Val640Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 469,
          "referenceAllele": "T",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000479537.6:c.469T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1906,
          "referenceAllele": "T",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000496384.7:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419060.2:p.Val600Glu",
        "hgvsWellDefined": "ENSP00000419060.2:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1885,
          "referenceAllele": "T",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000497784.2:c.*1249T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420119.2:n.*1249T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "T",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000642228.1:c.*877T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493678.1:n.*877T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "endIntronDirection": "-",
          "endIntronOffset": 3917,
          "referenceAllele": "T",
          "start": 1258,
          "startIntronDirection": "-",
          "startIntronOffset": 3918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000642875.1:n.1259-3918T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2189,
          "referenceAllele": "T",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000644120.1:n.2189T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "T",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000644650.1:c.895T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2681,
          "referenceAllele": "T",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000644905.1:n.2681T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "referenceAllele": "T",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000644969.2:c.1919T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496776.1:p.Val640Glu",
        "hgvsWellDefined": "ENSP00000496776.1:p.Val640Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644969.2:c.1919T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001374258.1:c.1919T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496776.1:p.Val640Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001361187.1:p.Val640Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2135,
          "referenceAllele": "T",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000646730.1:c.*375T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494784.1:n.*375T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "T",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000646891.1:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493543.1:p.Val600Glu",
        "hgvsWellDefined": "ENSP00000493543.1:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "endIntronDirection": "-",
          "endIntronOffset": 3917,
          "referenceAllele": "T",
          "start": 737,
          "startIntronDirection": "-",
          "startIntronOffset": 3918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000647434.1:c.738-3918T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495132.1:n.738-3918T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1860,
          "referenceAllele": "T",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000288602.10:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288602.6:p.Val600Glu",
        "hgvsWellDefined": "ENSP00000288602.6:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 83,
          "referenceAllele": "T",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000479537.5:c.83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418033.1:p.Val28Glu",
        "hgvsWellDefined": "ENSP00000418033.1:p.Val28Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 622,
          "referenceAllele": "T",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000496384.6:c.622T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1834,
          "referenceAllele": "T",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000497784.1:c.1834T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420119.1:n.1834T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094029",
      "coordinates": [
        {
          "allele": "A",
          "end": 1860,
          "referenceAllele": "T",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_004333.4:c.1799T>A",
        "LRG_299t1:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004324.2:p.Val600Glu",
        "hgvsWellDefined": "NP_004324.2:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "T",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_005250045.1:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250102.1:p.Val600Glu",
        "hgvsWellDefined": "XP_005250102.1:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "T",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_005250046.1:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250103.1:p.Val600Glu",
        "hgvsWellDefined": "XP_005250103.1:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "T",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_011516529.1:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514831.1:p.Val600Glu",
        "hgvsWellDefined": "XP_011514831.1:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "endIntronDirection": "-",
          "endIntronOffset": 3917,
          "referenceAllele": "T",
          "start": 1702,
          "startIntronDirection": "-",
          "startIntronOffset": 3918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_011516530.1:c.1695-3918T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514832.1:n.1695-3918T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "T",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_242190.1:n.1807T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "T",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_927520.1:n.1807T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "T",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_927521.1:n.1807T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "endIntronDirection": "-",
          "endIntronOffset": 3917,
          "referenceAllele": "T",
          "start": 1702,
          "startIntronDirection": "-",
          "startIntronOffset": 3918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_927522.1:n.1703-3918T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "endIntronDirection": "-",
          "endIntronOffset": 3917,
          "referenceAllele": "T",
          "start": 1702,
          "startIntronDirection": "-",
          "startIntronOffset": 3918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_927523.1:n.1703-3918T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827883514",
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "T",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001354609.1:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341538.1:p.Val600Glu",
        "hgvsWellDefined": "NP_001341538.1:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094029",
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "T",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_004333.5:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004324.2:p.Val600Glu",
        "hgvsWellDefined": "NP_004324.2:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "T",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NR_148928.1:n.2897T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "referenceAllele": "T",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_017012558.1:c.1919T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868047.1:p.Val640Glu",
        "hgvsWellDefined": "XP_016868047.1:p.Val640Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "referenceAllele": "T",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_017012559.1:c.1919T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868048.1:p.Val640Glu",
        "hgvsWellDefined": "XP_016868048.1:p.Val640Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "referenceAllele": "T",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_001744857.1:n.1927T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1822,
          "endIntronDirection": "-",
          "endIntronOffset": 3917,
          "referenceAllele": "T",
          "start": 1822,
          "startIntronDirection": "-",
          "startIntronOffset": 3918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_001744858.1:n.1823-3918T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827883514",
      "coordinates": [
        {
          "allele": "A",
          "end": 2025,
          "referenceAllele": "T",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001354609.2:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341538.1:p.Val600Glu",
        "hgvsWellDefined": "NP_001341538.1:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828475059",
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "referenceAllele": "T",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001374244.1:c.1919T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361173.1:p.Val640Glu",
        "hgvsWellDefined": "NP_001361173.1:p.Val640Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139743298",
      "coordinates": [
        {
          "allele": "A",
          "end": 2145,
          "referenceAllele": "T",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001374258.1:c.1919T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361187.1:p.Val640Glu",
        "hgvsWellDefined": "NP_001361187.1:p.Val640Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644969.2:c.1919T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001374258.1:c.1919T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496776.1:p.Val640Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001361187.1:p.Val640Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA094029",
      "coordinates": [
        {
          "allele": "A",
          "end": 2025,
          "referenceAllele": "T",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_004333.6:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004324.2:p.Val600Glu",
        "hgvsWellDefined": "NP_004324.2:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646891.2:c.1799T>A"
          },
          "RefSeq": {
            "hgvs": "NM_004333.6:c.1799T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493543.1:p.Val600Glu"
          },
          "RefSeq": {
            "hgvs": "NP_004324.2:p.Val600Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828775302",
      "coordinates": [
        {
          "allele": "A",
          "end": 2034,
          "referenceAllele": "T",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378467.1:c.1808T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365396.1:p.Val603Glu",
        "hgvsWellDefined": "NP_001365396.1:p.Val603Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721717"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828776011",
      "coordinates": [
        {
          "allele": "A",
          "end": 2025,
          "referenceAllele": "T",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378468.1:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365397.1:p.Val600Glu",
        "hgvsWellDefined": "NP_001365397.1:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721718"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828776665",
      "coordinates": [
        {
          "allele": "A",
          "end": 1959,
          "referenceAllele": "T",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378469.1:c.1733T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365398.1:p.Val578Glu",
        "hgvsWellDefined": "NP_001365398.1:p.Val578Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721719"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828777346",
      "coordinates": [
        {
          "allele": "A",
          "end": 1923,
          "referenceAllele": "T",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378470.1:c.1697T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365399.1:p.Val566Glu",
        "hgvsWellDefined": "NP_001365399.1:p.Val566Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828778025",
      "coordinates": [
        {
          "allele": "A",
          "end": 1914,
          "referenceAllele": "T",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378471.1:c.1688T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365400.1:p.Val563Glu",
        "hgvsWellDefined": "NP_001365400.1:p.Val563Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828778630",
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "T",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378472.1:c.1643T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365401.1:p.Val548Glu",
        "hgvsWellDefined": "NP_001365401.1:p.Val548Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828779239",
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "T",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378473.1:c.1643T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365402.1:p.Val548Glu",
        "hgvsWellDefined": "NP_001365402.1:p.Val548Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828779948",
      "coordinates": [
        {
          "allele": "A",
          "end": 2025,
          "referenceAllele": "T",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378474.1:c.1799T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365403.1:p.Val600Glu",
        "hgvsWellDefined": "NP_001365403.1:p.Val600Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580652578",
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378475.1:c.1535T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365404.1:p.Val512Glu",
        "hgvsWellDefined": "NP_001365404.1:p.Val512Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721725"
    }
  ],
  "type": "nucleotide"
}