{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA001670",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM1246204"
      },
      {
        "active": false,
        "id": "COSM6464884"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32720[alleleid]",
        "alleleId": 32720,
        "preferredName": "NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17681",
        "RCV": [
          "RCV000019251",
          "RCV000034733",
          "RCV000047867",
          "RCV000120283",
          "RCV000162566",
          "RCV000457953",
          "RCV001170820",
          "RCV002490393"
        ],
        "variationId": 17681
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-41245027-G-A",
        "id": "17-41245027-G-A",
        "variant": "17:41245027 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41245027G>A?assembly=hg19",
        "id": "chr17:g.41245027G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43093010G>A?assembly=hg38",
        "id": "chr17:g.43093010G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800709",
        "rs": 1800709
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41245027-G-A?dataset=gnomad_r2_1",
        "id": "17-41245027-G-A",
        "variant": "17:41245027 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43093010-G-A?dataset=gnomad_r3",
        "id": "17-43093010-G-A",
        "variant": "17:43093010 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43093010-G-A?dataset=gnomad_r4",
        "id": "17-43093010-G-A",
        "variant": "17:43093010 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43093010,
          "referenceAllele": "G",
          "start": 43093009
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43093010G>A",
        "CM000679.2:g.43093010G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41245027,
          "referenceAllele": "G",
          "start": 41245026
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41245027G>A",
        "CM000679.1:g.41245027G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38498553,
          "referenceAllele": "G",
          "start": 38498552
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38498553G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124974,
          "referenceAllele": "C",
          "start": 124973
        }
      ],
      "hgvs": [
        "NG_005905.2:g.124974C>T",
        "LRG_292:g.124974C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2585,
          "referenceAllele": "C",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.2585C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2640,
          "referenceAllele": "C",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Arg841Trp",
        "hgvsWellDefined": "ENSP00000417241.2:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2702,
          "referenceAllele": "C",
          "start": 2701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Arg841Trp",
        "hgvsWellDefined": "ENSP00000419274.2:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2508,
          "referenceAllele": "C",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.2395C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Arg799Trp",
        "hgvsWellDefined": "ENSP00000420201.2:p.Arg799Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.2518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Arg840Trp",
        "hgvsWellDefined": "ENSP00000417554.2:p.Arg840Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2556,
          "referenceAllele": "C",
          "start": 2555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.2443C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Arg815Trp",
        "hgvsWellDefined": "ENSP00000419988.2:p.Arg815Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.784+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.784+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2602,
          "referenceAllele": "C",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.2443C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Arg815Trp",
        "hgvsWellDefined": "ENSP00000420781.2:p.Arg815Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.646+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.646+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "referenceAllele": "C",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Arg841Trp",
        "hgvsWellDefined": "ENSP00000419103.2:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1881,
          "referenceAllele": "C",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.1633C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Arg545Trp",
        "hgvsWellDefined": "ENSP00000418986.2:p.Arg545Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3168,
          "referenceAllele": "C",
          "start": 3167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Arg841Trp",
        "hgvsWellDefined": "ENSP00000478114.2:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2537,
          "referenceAllele": "C",
          "start": 2536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Arg800Trp",
        "hgvsWellDefined": "ENSP00000489431.2:p.Arg800Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2634,
          "referenceAllele": "C",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Arg841Trp",
        "hgvsWellDefined": "ENSP00000496570.2:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.646+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.646+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2866,
          "referenceAllele": "C",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.2380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Arg794Trp",
        "hgvsWellDefined": "ENSP00000498906.2:p.Arg794Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.664+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.664+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 798,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.706+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.706+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2634,
          "referenceAllele": "C",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Arg841Trp",
        "hgvsWellDefined": "ENSP00000350283.3:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.2521C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.2521C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Arg841Trp"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Arg841Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "referenceAllele": "C",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Arg841Trp",
        "hgvsWellDefined": "ENSP00000418960.2:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 1977,
          "referenceAllele": "C",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.671-1978C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.671-1978C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2585,
          "referenceAllele": "C",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Arg841Trp",
        "hgvsWellDefined": "ENSP00000326002.7:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2640,
          "referenceAllele": "C",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Arg841Trp",
        "hgvsWellDefined": "ENSP00000350283.3:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2622,
          "referenceAllele": "C",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*2304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*2304C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.787+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.787+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "referenceAllele": "C",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Arg841Trp",
        "hgvsWellDefined": "ENSP00000418960.2:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.784+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.784+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.409+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.409+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.412+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.412+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.787+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.787+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2612,
          "referenceAllele": "C",
          "start": 2611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.2380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Arg794Trp",
        "hgvsWellDefined": "ENSP00000418775.1:p.Arg794Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.646+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.646+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 29058,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 29059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-29059C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-29059C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 18488,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 18489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-18489C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-18489C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 32261,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 32260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+32261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+32261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA249507",
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "referenceAllele": "C",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.2521C>T",
        "LRG_292t1:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Arg841Trp",
        "hgvsWellDefined": "NP_009225.1:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829691363",
      "coordinates": [
        {
          "allele": "T",
          "end": 2661,
          "referenceAllele": "C",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.2380C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Arg794Trp",
        "hgvsWellDefined": "NP_009228.2:p.Arg794Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.787+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.787+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.787+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443643",
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "referenceAllele": "C",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Arg841Trp",
        "hgvsWellDefined": "NP_009231.2:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2657,
          "referenceAllele": "C",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.2657C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA249507",
      "coordinates": [
        {
          "allele": "T",
          "end": 2634,
          "referenceAllele": "C",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Arg841Trp",
        "hgvsWellDefined": "NP_009225.1:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.2521C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.2521C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Arg841Trp"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Arg841Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829691363",
      "coordinates": [
        {
          "allele": "T",
          "end": 2574,
          "referenceAllele": "C",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.2380C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Arg794Trp",
        "hgvsWellDefined": "NP_009228.2:p.Arg794Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "C",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.787+1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+1734C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443643",
      "coordinates": [
        {
          "allele": "T",
          "end": 2634,
          "referenceAllele": "C",
          "start": 2633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Arg841Trp",
        "hgvsWellDefined": "NP_009231.2:p.Arg841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.2698C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}