{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10599841",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.1108G>C (p.Val370Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=618683[alleleid]",
        "alleleId": 618683,
        "preferredName": "NM_007294.4(BRCA1):c.1108G>C (p.Val370Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/628528",
        "RCV": [
          "RCV000773010",
          "RCV002534048"
        ],
        "variationId": 628528
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41246440C>G?assembly=hg19",
        "id": "chr17:g.41246440C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43094423C>G?assembly=hg38",
        "id": "chr17:g.43094423C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1567800850",
        "rs": 1567800850
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43094423-C-G?dataset=gnomad_r4",
        "id": "17-43094423-C-G",
        "variant": "17:43094423 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43094423,
          "referenceAllele": "C",
          "start": 43094422
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43094423C>G",
        "CM000679.2:g.43094423C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41246440,
          "referenceAllele": "C",
          "start": 41246439
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41246440C>G",
        "CM000679.1:g.41246440C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38499966,
          "referenceAllele": "C",
          "start": 38499965
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38499966C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 123561,
          "referenceAllele": "G",
          "start": 123560
        }
      ],
      "hgvs": [
        "NG_005905.2:g.123561G>C",
        "LRG_292:g.123561G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "referenceAllele": "G",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.1172G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1227,
          "referenceAllele": "G",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000417241.2:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1289,
          "referenceAllele": "G",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000419274.2:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1095,
          "referenceAllele": "G",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.982G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Val328Leu",
        "hgvsWellDefined": "ENSP00000420201.2:p.Val328Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.1105G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Val369Leu",
        "hgvsWellDefined": "ENSP00000417554.2:p.Val369Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.1030G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Val344Leu",
        "hgvsWellDefined": "ENSP00000419988.2:p.Val344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.784+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.784+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1189,
          "referenceAllele": "G",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.1030G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Val344Leu",
        "hgvsWellDefined": "ENSP00000420781.2:p.Val344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.646+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.646+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000419103.2:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.220G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Val74Leu",
        "hgvsWellDefined": "ENSP00000418986.2:p.Val74Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1755,
          "referenceAllele": "G",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000478114.2:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.985G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Val329Leu",
        "hgvsWellDefined": "ENSP00000489431.2:p.Val329Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1221,
          "referenceAllele": "G",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000496570.2:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.646+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.646+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.967G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Val323Leu",
        "hgvsWellDefined": "ENSP00000498906.2:p.Val323Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.664+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.664+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 798,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 798,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.706+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.706+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*1116G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*1116G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1221,
          "referenceAllele": "G",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000350283.3:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1108G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1108G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Val370Leu"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Val370Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000418960.2:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.967G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:p.Val323Leu",
        "hgvsWellDefined": "ENSP00000498906.1:p.Val323Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 1423,
          "referenceAllele": "G",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.670+1423G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.670+1423G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "referenceAllele": "G",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000326002.7:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1227,
          "referenceAllele": "G",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000350283.3:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 459,
          "referenceAllele": "G",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000412061.3:c.459G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1209,
          "referenceAllele": "G",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*891G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*891G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.787+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.787+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000419274.1:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000418960.2:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.5:c.705G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.1030G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:p.Val344Leu",
        "hgvsWellDefined": "ENSP00000419988.1:p.Val344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.784+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.784+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.409+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.409+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.412+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.412+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.787+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.787+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*1044G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*1044G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.967G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Val323Leu",
        "hgvsWellDefined": "ENSP00000418775.1:p.Val323Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.646+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.646+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.Val370Leu",
        "hgvsWellDefined": "ENSP00000419103.1:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.220G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:p.Val74Leu",
        "hgvsWellDefined": "ENSP00000418986.1:p.Val74Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 30471,
          "referenceAllele": "G",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 30472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-30472G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-30472G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 19901,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 19902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-19902G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-19902G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 30848,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 30847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+30848G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+30848G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.985G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Val329Leu",
        "hgvsWellDefined": "ENSP00000489431.1:p.Val329Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913196872",
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.1108G>C",
        "LRG_292t1:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Val370Leu",
        "hgvsWellDefined": "NP_009225.1:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829688357",
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.967G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Val323Leu",
        "hgvsWellDefined": "NP_009228.2:p.Val323Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.787+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.787+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.787+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915996048",
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Val370Leu",
        "hgvsWellDefined": "NP_009231.2:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1244,
          "referenceAllele": "G",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.1244G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913196872",
      "coordinates": [
        {
          "allele": "C",
          "end": 1221,
          "referenceAllele": "G",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Val370Leu",
        "hgvsWellDefined": "NP_009225.1:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1108G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1108G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Val370Leu"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Val370Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829688357",
      "coordinates": [
        {
          "allele": "C",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.967G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Val323Leu",
        "hgvsWellDefined": "NP_009228.2:p.Val323Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "G",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.787+321G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+321G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915996048",
      "coordinates": [
        {
          "allele": "C",
          "end": 1221,
          "referenceAllele": "G",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.1108G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Val370Leu",
        "hgvsWellDefined": "NP_009231.2:p.Val370Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1285,
          "referenceAllele": "G",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.1285G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}