{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA280025",
  "communityStandardTitle": [
    "NM_004333.6(BRAF):c.730A>C (p.Thr244Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48816[alleleid]",
        "alleleId": 48816,
        "preferredName": "NM_004333.6(BRAF):c.730A>C (p.Thr244Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40346",
        "RCV": [
          "RCV000033282",
          "RCV000037955",
          "RCV000804367"
        ],
        "variationId": 40346
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.140501342T>G?assembly=hg19",
        "id": "chr7:g.140501342T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.140801542T>G?assembly=hg38",
        "id": "chr7:g.140801542T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397507465",
        "rs": 397507465
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 140801542,
          "referenceAllele": "T",
          "start": 140801541
        }
      ],
      "hgvs": [
        "NC_000007.14:g.140801542T>G",
        "CM000669.2:g.140801542T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 140501342,
          "referenceAllele": "T",
          "start": 140501341
        }
      ],
      "hgvs": [
        "NC_000007.13:g.140501342T>G",
        "CM000669.1:g.140501342T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 140147811,
          "referenceAllele": "T",
          "start": 140147810
        }
      ],
      "hgvs": [
        "NC_000007.12:g.140147811T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 128223,
          "referenceAllele": "A",
          "start": 128222
        }
      ],
      "hgvs": [
        "NG_007873.3:g.128223A>C",
        "LRG_299:g.128223A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000682"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000646891.2:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493543.1:p.Thr244Pro",
        "hgvsWellDefined": "ENSP00000493543.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906449",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646891.2:c.730A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004333.6:c.730A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493543.1:p.Thr244Pro"
          },
          "RefSeq": {
            "hgvs": "NP_004324.2:p.Thr244Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "referenceAllele": "A",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000288602.11:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288602.7:p.Thr244Pro",
        "hgvsWellDefined": "ENSP00000288602.7:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 837,
          "referenceAllele": "A",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000496384.7:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419060.2:p.Thr244Pro",
        "hgvsWellDefined": "ENSP00000419060.2:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 816,
          "referenceAllele": "A",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000497784.2:c.*180A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420119.2:n.*180A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 739,
          "referenceAllele": "A",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000642228.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493678.1:p.Thr244Pro",
        "hgvsWellDefined": "ENSP00000493678.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "referenceAllele": "A",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000642272.1:n.762A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "A",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000642875.1:n.224A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000643356.1:n.331A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "referenceAllele": "A",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000644120.1:n.1172A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "A",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000644905.1:n.819A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000644969.2:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496776.1:p.Thr244Pro",
        "hgvsWellDefined": "ENSP00000496776.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644969.2:c.730A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001374258.1:c.730A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496776.1:p.Thr244Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001361187.1:p.Thr244Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 735,
          "referenceAllele": "A",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000646730.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494784.1:p.Thr244Pro",
        "hgvsWellDefined": "ENSP00000494784.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "referenceAllele": "A",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000646891.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493543.1:p.Thr244Pro",
        "hgvsWellDefined": "ENSP00000493543.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 791,
          "referenceAllele": "A",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000288602.10:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288602.6:p.Thr244Pro",
        "hgvsWellDefined": "ENSP00000288602.6:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 765,
          "referenceAllele": "A",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "ENST00000497784.1:c.765A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420119.1:n.765A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094000",
      "coordinates": [
        {
          "allele": "C",
          "end": 791,
          "referenceAllele": "A",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_004333.4:c.730A>C",
        "LRG_299t1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004324.2:p.Thr244Pro",
        "hgvsWellDefined": "NP_004324.2:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_005250045.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250102.1:p.Thr244Pro",
        "hgvsWellDefined": "XP_005250102.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_005250046.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250103.1:p.Thr244Pro",
        "hgvsWellDefined": "XP_005250103.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_011516529.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514831.1:p.Thr244Pro",
        "hgvsWellDefined": "XP_011514831.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_011516530.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514832.1:p.Thr244Pro",
        "hgvsWellDefined": "XP_011514832.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083731"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_242190.1:n.738A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_927520.1:n.738A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_927521.1:n.738A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_927522.1:n.738A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_927523.1:n.738A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827883136",
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "referenceAllele": "A",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001354609.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341538.1:p.Thr244Pro",
        "hgvsWellDefined": "NP_001341538.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094000",
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "referenceAllele": "A",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_004333.5:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004324.2:p.Thr244Pro",
        "hgvsWellDefined": "NP_004324.2:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1035,
          "referenceAllele": "A",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NR_148928.1:n.1035A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531377"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_017012558.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868047.1:p.Thr244Pro",
        "hgvsWellDefined": "XP_016868047.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XM_017012559.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868048.1:p.Thr244Pro",
        "hgvsWellDefined": "XP_016868048.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_001744857.1:n.738A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "A",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "XR_001744858.1:n.738A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827883136",
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001354609.2:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341538.1:p.Thr244Pro",
        "hgvsWellDefined": "NP_001341538.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828474148",
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001374244.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361173.1:p.Thr244Pro",
        "hgvsWellDefined": "NP_001361173.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828481749",
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001374258.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361187.1:p.Thr244Pro",
        "hgvsWellDefined": "NP_001361187.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644969.2:c.730A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001374258.1:c.730A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496776.1:p.Thr244Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001361187.1:p.Thr244Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA094000",
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_004333.6:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004324.2:p.Thr244Pro",
        "hgvsWellDefined": "NP_004324.2:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646891.2:c.730A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004333.6:c.730A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493543.1:p.Thr244Pro"
          },
          "RefSeq": {
            "hgvs": "NP_004324.2:p.Thr244Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139744753",
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "A",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378467.1:c.739A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365396.1:p.Thr247Pro",
        "hgvsWellDefined": "NP_001365396.1:p.Thr247Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721717"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828775650",
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378468.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365397.1:p.Thr244Pro",
        "hgvsWellDefined": "NP_001365397.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721718"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828776327",
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378469.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365398.1:p.Thr244Pro",
        "hgvsWellDefined": "NP_001365398.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721719"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828776983",
      "coordinates": [
        {
          "allele": "C",
          "end": 854,
          "referenceAllele": "A",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378470.1:c.628A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365399.1:p.Thr210Pro",
        "hgvsWellDefined": "NP_001365399.1:p.Thr210Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828777692",
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378471.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365400.1:p.Thr244Pro",
        "hgvsWellDefined": "NP_001365400.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828778266",
      "coordinates": [
        {
          "allele": "C",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378472.1:c.574A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365401.1:p.Thr192Pro",
        "hgvsWellDefined": "NP_001365401.1:p.Thr192Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828778868",
      "coordinates": [
        {
          "allele": "C",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378473.1:c.574A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365402.1:p.Thr192Pro",
        "hgvsWellDefined": "NP_001365402.1:p.Thr192Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828779583",
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378474.1:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365403.1:p.Thr244Pro",
        "hgvsWellDefined": "NP_001365403.1:p.Thr244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828780187",
      "coordinates": [
        {
          "allele": "C",
          "end": 692,
          "referenceAllele": "A",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001097",
      "geneNCBI_id": 673,
      "geneSymbol": "BRAF",
      "hgvs": [
        "NM_001378475.1:c.466A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365404.1:p.Thr156Pro",
        "hgvsWellDefined": "NP_001365404.1:p.Thr156Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721725"
    }
  ],
  "type": "nucleotide"
}