{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10601800",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.182G>C (p.Cys61Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=854669[alleleid]",
        "alleleId": 854669,
        "preferredName": "NM_007294.4(BRCA1):c.182G>C (p.Cys61Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/867922",
        "RCV": [
          "RCV001076714"
        ],
        "variationId": 867922
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41258503C>G?assembly=hg19",
        "id": "chr17:g.41258503C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43106486C>G?assembly=hg38",
        "id": "chr17:g.43106486C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357093",
        "rs": 80357093
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43106486,
          "referenceAllele": "C",
          "start": 43106485
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43106486C>G",
        "CM000679.2:g.43106486C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41258503,
          "referenceAllele": "C",
          "start": 41258502
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41258503C>G",
        "CM000679.1:g.41258503C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38512029,
          "referenceAllele": "C",
          "start": 38512028
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38512029C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111498,
          "referenceAllele": "G",
          "start": 111497
        }
      ],
      "hgvs": [
        "NG_005905.2:g.111498G>C",
        "LRG_292:g.111498G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.246G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 301,
          "referenceAllele": "G",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000417241.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000419274.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000420201.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000417554.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 1529,
          "referenceAllele": "G",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.135-1530G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:n.135-1530G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000420412.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 293,
          "endIntronDirection": "-",
          "endIntronOffset": 1529,
          "referenceAllele": "G",
          "start": 293,
          "startIntronDirection": "-",
          "startIntronOffset": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.135-1530G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:n.135-1530G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "G",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.41G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Cys14Ser",
        "hgvsWellDefined": "ENSP00000418819.2:p.Cys14Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000419103.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 11625,
          "referenceAllele": "G",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 11626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.-218-11626G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:n.-218-11626G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000478114.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000489431.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000496570.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.41G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Cys14Ser",
        "hgvsWellDefined": "ENSP00000494614.2:p.Cys14Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.41G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Cys14Ser",
        "hgvsWellDefined": "ENSP00000498906.2:p.Cys14Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "referenceAllele": "G",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000419481.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 1529,
          "referenceAllele": "G",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.135-1530G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.135-1530G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*118G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*118G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700184.1:n.425G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000350283.3:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.182G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.182G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Cys61Ser"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Cys61Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000418960.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000642945.1:c.*56G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495897.1:n.*56G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.1:c.41G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.1:p.Cys14Ser",
        "hgvsWellDefined": "ENSP00000494614.1:p.Cys14Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.41G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:p.Cys14Ser",
        "hgvsWellDefined": "ENSP00000498906.1:p.Cys14Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 301,
          "referenceAllele": "G",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000312236.5:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000326002.7:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 301,
          "referenceAllele": "G",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000350283.3:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "referenceAllele": "G",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000418548.1:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461798.5:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417988.1:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000417988.1:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000417148.1:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000419274.1:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000418960.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.5:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.1:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000417554.1:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 1529,
          "referenceAllele": "G",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.135-1530G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:n.135-1530G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000420412.1:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 293,
          "endIntronDirection": "-",
          "endIntronOffset": 1529,
          "referenceAllele": "G",
          "start": 293,
          "startIntronDirection": "-",
          "startIntronOffset": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.1:c.135-1530G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.1:n.135-1530G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "referenceAllele": "G",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000420705.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "referenceAllele": "G",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*118G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*118G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "G",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.41G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Cys14Ser",
        "hgvsWellDefined": "ENSP00000418775.1:p.Cys14Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "G",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.41G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:p.Cys14Ser",
        "hgvsWellDefined": "ENSP00000418819.1:p.Cys14Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000419103.1:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 11625,
          "referenceAllele": "G",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 11626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.-218-11626G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:n.-218-11626G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 18696,
          "referenceAllele": "G",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 18695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.4+18696G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.4+18696G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 18785,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 18784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-44+18785G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-44+18785G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 18785,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 18784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+18785G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+18785G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Cys61Ser",
        "hgvsWellDefined": "ENSP00000489431.1:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA327783",
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.182G>C",
        "LRG_292t1:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Cys61Ser",
        "hgvsWellDefined": "NP_009225.1:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829686360",
      "coordinates": [
        {
          "allele": "C",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.41G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Cys14Ser",
        "hgvsWellDefined": "NP_009228.2:p.Cys14Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829699282",
      "coordinates": [
        {
          "allele": "C",
          "end": 201,
          "referenceAllele": "G",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Cys61Ser",
        "hgvsWellDefined": "NP_009229.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829710269",
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Cys61Ser",
        "hgvsWellDefined": "NP_009230.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994901",
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Cys61Ser",
        "hgvsWellDefined": "NP_009231.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.343G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA327783",
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Cys61Ser",
        "hgvsWellDefined": "NP_009225.1:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.182G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.182G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Cys61Ser"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Cys61Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829686360",
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "referenceAllele": "G",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.41G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Cys14Ser",
        "hgvsWellDefined": "NP_009228.2:p.Cys14Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829710269",
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Cys61Ser",
        "hgvsWellDefined": "NP_009230.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994901",
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.182G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Cys61Ser",
        "hgvsWellDefined": "NP_009231.2:p.Cys61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.384G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}