{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA001406",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.212+1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=69131[alleleid]",
        "alleleId": 69131,
        "preferredName": "NM_007294.4(BRCA1):c.212+1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/54464",
        "RCV": [
          "RCV000112018",
          "RCV000496773"
        ],
        "variationId": 54464
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41258472C>G?assembly=hg19",
        "id": "chr17:g.41258472C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43106455C>G?assembly=hg38",
        "id": "chr17:g.43106455C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358042",
        "rs": 80358042
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43106455,
          "referenceAllele": "C",
          "start": 43106454
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43106455C>G",
        "CM000679.2:g.43106455C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41258472,
          "referenceAllele": "C",
          "start": 41258471
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41258472C>G",
        "CM000679.1:g.41258472C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38511998,
          "referenceAllele": "C",
          "start": 38511997
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38511998C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111529,
          "referenceAllele": "G",
          "start": 111528
        }
      ],
      "hgvs": [
        "NG_005905.2:g.111529G>C",
        "LRG_292:g.111529G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.276+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 393,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 325,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 1498,
          "referenceAllele": "G",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.135-1499G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:n.135-1499G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 293,
          "endIntronDirection": "-",
          "endIntronOffset": 1498,
          "referenceAllele": "G",
          "start": 293,
          "startIntronDirection": "-",
          "startIntronOffset": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.135-1499G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:n.135-1499G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 11594,
          "referenceAllele": "G",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 11595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.-218-11595G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:n.-218-11595G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 859,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 859,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 351,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 325,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 476,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 476,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 557,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 304,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 1498,
          "referenceAllele": "G",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.135-1499G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.135-1499G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 398,
          "endIntronDirection": "+",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 398,
          "startIntronDirection": "+",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*126+23G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*126+23G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 455,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 455,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700184.1:n.455+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 325,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.212+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.212+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:n.212+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:n.212+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 444,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000642945.1:c.*86+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495897.1:n.*86+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 432,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 432,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.1:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 557,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 316,
          "endIntronDirection": "+",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 316,
          "startIntronDirection": "+",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.190+23G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.190+23G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461798.5:c.190+23G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417988.1:n.190+23G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 406,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 406,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 373,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 444,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.5:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.1:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 1498,
          "referenceAllele": "G",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.135-1499G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:n.135-1499G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 293,
          "endIntronDirection": "-",
          "endIntronOffset": 1498,
          "referenceAllele": "G",
          "start": 293,
          "startIntronDirection": "-",
          "startIntronOffset": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.1:c.135-1499G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.1:n.135-1499G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 311,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*148+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*148+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 11594,
          "referenceAllele": "G",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 11595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.-218-11595G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:n.-218-11595G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 18727,
          "referenceAllele": "G",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 18726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.4+18727G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.4+18727G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 18816,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 18815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-44+18816G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-44+18816G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 18816,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 18815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+18816G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+18816G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 351,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 444,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.212+1G>C",
        "LRG_292t1:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 352,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 406,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 406,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 444,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "endIntronDirection": "+",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 351,
          "startIntronDirection": "+",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.351+23G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 325,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.212+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.212+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:n.212+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:n.212+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 325,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.212+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:n.212+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 392,
          "endIntronDirection": "+",
          "endIntronOffset": 23,
          "referenceAllele": "G",
          "start": 392,
          "startIntronDirection": "+",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.392+23G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}