{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA003796",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.670+8C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=131441[alleleid]",
        "alleleId": 131441,
        "preferredName": "NM_007294.4(BRCA1):c.670+8C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/125903",
        "RCV": [
          "RCV000112761"
        ],
        "variationId": 125903
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41247855G>C?assembly=hg19",
        "id": "chr17:g.41247855G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43095838G>C?assembly=hg38",
        "id": "chr17:g.43095838G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358050",
        "rs": 80358050
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43095838-G-C?dataset=gnomad_r4",
        "id": "17-43095838-G-C",
        "variant": "17:43095838 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 43095838,
          "referenceAllele": "G",
          "start": 43095837
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43095838G>C",
        "CM000679.2:g.43095838G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41247855,
          "referenceAllele": "G",
          "start": 41247854
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41247855G>C",
        "CM000679.1:g.41247855G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 38501381,
          "referenceAllele": "G",
          "start": 38501380
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38501381G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 122146,
          "referenceAllele": "C",
          "start": 122145
        }
      ],
      "hgvs": [
        "NG_005905.2:g.122146C>G",
        "LRG_292:g.122146C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 734,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.734+8C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 851,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "endIntronDirection": "-",
          "endIntronOffset": 977,
          "referenceAllele": "C",
          "start": 657,
          "startIntronDirection": "-",
          "startIntronOffset": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.545-978C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:n.545-978C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 776,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.667+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:n.667+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 705,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.592+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:n.592+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.667+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.667+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 751,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 751,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.592+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:n.592+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 761,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.529+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.529+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 863,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 977,
          "referenceAllele": "C",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.-218-978C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:n.-218-978C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1317,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1317,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "endIntronDirection": "-",
          "endIntronOffset": 977,
          "referenceAllele": "C",
          "start": 686,
          "startIntronDirection": "-",
          "startIntronOffset": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.548-978C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:n.548-978C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.529+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.529+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1015,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.529+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:n.529+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 639,
          "endIntronDirection": "-",
          "endIntronOffset": 977,
          "referenceAllele": "C",
          "start": 639,
          "startIntronDirection": "-",
          "startIntronOffset": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.548-978C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.548-978C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 681,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.589+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.589+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 950,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 950,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*678+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*678+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.670+8C>G"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.670+8C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:n.670+8C>G"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:n.670+8C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 902,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 902,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000642945.1:c.*544+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495897.1:n.*544+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1015,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.529+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:n.529+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 734,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 21,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000412061.3:c.21+8C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 771,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*453+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*453+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 864,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 831,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 831,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 902,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 902,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "endIntronDirection": "-",
          "endIntronOffset": 977,
          "referenceAllele": "C",
          "start": 267,
          "startIntronDirection": "-",
          "startIntronOffset": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.5:c.268-978C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 705,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.592+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:n.592+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.667+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.667+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 292,
          "endIntronDirection": "-",
          "endIntronOffset": 977,
          "referenceAllele": "C",
          "start": 292,
          "startIntronDirection": "-",
          "startIntronOffset": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.293-978C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.293-978C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 295,
          "endIntronDirection": "-",
          "endIntronOffset": 977,
          "referenceAllele": "C",
          "start": 295,
          "startIntronDirection": "-",
          "startIntronOffset": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.296-978C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.296-978C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 835,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 835,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*606+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*606+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 761,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.529+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:n.529+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 761,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.529+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.529+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 863,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 977,
          "referenceAllele": "C",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.-218-978C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:n.-218-978C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 29344,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 29343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.4+29344C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.4+29344C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 21316,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 21317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-21317C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-21317C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 29433,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 29432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+29433C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+29433C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "endIntronDirection": "-",
          "endIntronOffset": 977,
          "referenceAllele": "C",
          "start": 686,
          "startIntronDirection": "-",
          "startIntronOffset": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.548-978C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:n.548-978C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 902,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 902,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.670+8C>G",
        "LRG_292t1:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 810,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.529+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:n.529+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 689,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 689,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 864,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 902,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 902,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.806+8C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.670+8C>G"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.670+8C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:n.670+8C>G"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:n.670+8C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 723,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 723,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.529+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:n.529+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 777,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 777,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.670+8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:n.670+8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 847,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 847,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.847+8C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}