{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2260784904",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.1121C= (p.Thr374=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357235",
        "rs": 80357235
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357612",
        "rs": 80357612
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43094410,
          "referenceAllele": "G",
          "start": 43094409
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43094410G=",
        "CM000679.2:g.43094410G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41246427,
          "referenceAllele": "G",
          "start": 41246426
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41246427G=",
        "CM000679.1:g.41246427G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38499953,
          "referenceAllele": "G",
          "start": 38499952
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38499953G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 123574,
          "referenceAllele": "C",
          "start": 123573
        }
      ],
      "hgvs": [
        "NG_005905.2:g.123574C=",
        "LRG_292:g.123574C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "referenceAllele": "C",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.1185C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1240,
          "referenceAllele": "C",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1302,
          "referenceAllele": "C",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.995C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Thr332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.1118C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Thr373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.1043C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Thr348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.784+334C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.784+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.1043C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Thr348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.646+334C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.646+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Thr78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1768,
          "referenceAllele": "C",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1137,
          "referenceAllele": "C",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.998C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Thr333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1234,
          "referenceAllele": "C",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.646+334C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.646+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1466,
          "referenceAllele": "C",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.980C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Thr327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.664+334C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.664+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 798,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 798,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.706+334C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.706+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*1129C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*1129C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1234,
          "referenceAllele": "C",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1121C="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1121C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Thr374="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Thr374="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1353,
          "referenceAllele": "C",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1466,
          "referenceAllele": "C",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.980C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:p.Thr327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 1436,
          "referenceAllele": "C",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.670+1436C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.670+1436C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "referenceAllele": "C",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1240,
          "referenceAllele": "C",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "referenceAllele": "C",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000412061.3:c.472C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "C",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*904C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*904C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.787+334C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.787+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1282,
          "referenceAllele": "C",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1353,
          "referenceAllele": "C",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.5:c.718C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.1043C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:p.Thr348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.784+334C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.784+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.409+334C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.409+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.412+334C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.412+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.787+334C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.787+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*1057C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*1057C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.980C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Thr327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.646+334C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.646+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:p.Thr78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 30458,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 30459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-30459C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-30459C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 19888,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 19889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-19889C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-19889C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 30861,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 30860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+30861C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+30861C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1137,
          "referenceAllele": "C",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.998C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Thr333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829678167",
      "coordinates": [
        {
          "allele": "C",
          "end": 1353,
          "referenceAllele": "C",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.1121C=",
        "LRG_292t1:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829688398",
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.980C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Thr327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.787+334C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.787+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.787+334C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829718464",
      "coordinates": [
        {
          "allele": "C",
          "end": 1353,
          "referenceAllele": "C",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1257,
          "referenceAllele": "C",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.1257C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829678167",
      "coordinates": [
        {
          "allele": "C",
          "end": 1234,
          "referenceAllele": "C",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1121C="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1121C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Thr374="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Thr374="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829688398",
      "coordinates": [
        {
          "allele": "C",
          "end": 1174,
          "referenceAllele": "C",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.980C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Thr327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 334,
          "referenceAllele": "C",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.787+334C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+334C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829718464",
      "coordinates": [
        {
          "allele": "C",
          "end": 1234,
          "referenceAllele": "C",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.1121C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Thr374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.1298C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}