{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA002361",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46097[alleleid]",
        "alleleId": 46097,
        "preferredName": "NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37541",
        "RCV": [
          "RCV000031122",
          "RCV000048282",
          "RCV000131521",
          "RCV000195391",
          "RCV001281713",
          "RCV004554626"
        ],
        "variationId": 37541
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-41243857-A-G",
        "id": "17-41243857-A-G",
        "variant": "17:41243857 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41243857A>G?assembly=hg19",
        "id": "chr17:g.41243857A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43091840A>G?assembly=hg38",
        "id": "chr17:g.43091840A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41293451",
        "rs": 41293451
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41243857-A-G?dataset=gnomad_r2_1",
        "id": "17-41243857-A-G",
        "variant": "17:41243857 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43091840-A-G?dataset=gnomad_r3",
        "id": "17-43091840-A-G",
        "variant": "17:43091840 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43091840-A-G?dataset=gnomad_r4",
        "id": "17-43091840-A-G",
        "variant": "17:43091840 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43091840,
          "referenceAllele": "A",
          "start": 43091839
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43091840A>G",
        "CM000679.2:g.43091840A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41243857,
          "referenceAllele": "A",
          "start": 41243856
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41243857A>G",
        "CM000679.1:g.41243857A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38497383,
          "referenceAllele": "A",
          "start": 38497382
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38497383A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 126144,
          "referenceAllele": "T",
          "start": 126143
        }
      ],
      "hgvs": [
        "NG_005905.2:g.126144T>C",
        "LRG_292:g.126144T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3755,
          "referenceAllele": "T",
          "start": 3754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.3755T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3810,
          "referenceAllele": "T",
          "start": 3809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Phe1231Leu",
        "hgvsWellDefined": "ENSP00000417241.2:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3872,
          "referenceAllele": "T",
          "start": 3871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Phe1231Leu",
        "hgvsWellDefined": "ENSP00000419274.2:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3678,
          "referenceAllele": "T",
          "start": 3677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.3565T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Phe1189Leu",
        "hgvsWellDefined": "ENSP00000420201.2:p.Phe1189Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3797,
          "referenceAllele": "T",
          "start": 3796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.3688T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Phe1230Leu",
        "hgvsWellDefined": "ENSP00000417554.2:p.Phe1230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3726,
          "referenceAllele": "T",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.3613T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Phe1205Leu",
        "hgvsWellDefined": "ENSP00000419988.2:p.Phe1205Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.785-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.785-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3772,
          "referenceAllele": "T",
          "start": 3771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.3613T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Phe1205Leu",
        "hgvsWellDefined": "ENSP00000420781.2:p.Phe1205Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.647-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.647-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3884,
          "referenceAllele": "T",
          "start": 3883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Phe1231Leu",
        "hgvsWellDefined": "ENSP00000419103.2:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3051,
          "referenceAllele": "T",
          "start": 3050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.2803T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Phe935Leu",
        "hgvsWellDefined": "ENSP00000418986.2:p.Phe935Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4338,
          "referenceAllele": "T",
          "start": 4337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Phe1231Leu",
        "hgvsWellDefined": "ENSP00000478114.2:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3707,
          "referenceAllele": "T",
          "start": 3706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.3568T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Phe1190Leu",
        "hgvsWellDefined": "ENSP00000489431.2:p.Phe1190Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3804,
          "referenceAllele": "T",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Phe1231Leu",
        "hgvsWellDefined": "ENSP00000496570.2:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.647-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.647-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4036,
          "referenceAllele": "T",
          "start": 4035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.3550T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Phe1184Leu",
        "hgvsWellDefined": "ENSP00000498906.2:p.Phe1184Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.665-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.665-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 798,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 798,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.707-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.707-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3804,
          "referenceAllele": "T",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Phe1231Leu",
        "hgvsWellDefined": "ENSP00000350283.3:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3691T>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3691T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Phe1231Leu"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Phe1231Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3923,
          "referenceAllele": "T",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Phe1231Leu",
        "hgvsWellDefined": "ENSP00000418960.2:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12,
          "referenceAllele": "T",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.12T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.671-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.671-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3755,
          "referenceAllele": "T",
          "start": 3754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Phe1231Leu",
        "hgvsWellDefined": "ENSP00000326002.7:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3810,
          "referenceAllele": "T",
          "start": 3809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Phe1231Leu",
        "hgvsWellDefined": "ENSP00000350283.3:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3792,
          "referenceAllele": "T",
          "start": 3791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*3474T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*3474T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.788-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.788-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3923,
          "referenceAllele": "T",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Phe1231Leu",
        "hgvsWellDefined": "ENSP00000418960.2:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.785-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.785-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.410-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.410-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 412,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.413-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.413-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.788-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.788-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3782,
          "referenceAllele": "T",
          "start": 3781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.3550T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Phe1184Leu",
        "hgvsWellDefined": "ENSP00000418775.1:p.Phe1184Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.647-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.647-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 27888,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 27889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-27889T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-27889T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 17318,
          "referenceAllele": "T",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 17319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-17319T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-17319T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 33431,
          "referenceAllele": "T",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 33430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+33431T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+33431T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA168299",
      "coordinates": [
        {
          "allele": "C",
          "end": 3923,
          "referenceAllele": "T",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.3691T>C",
        "LRG_292t1:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Phe1231Leu",
        "hgvsWellDefined": "NP_009225.1:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829693279",
      "coordinates": [
        {
          "allele": "C",
          "end": 3831,
          "referenceAllele": "T",
          "start": 3830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.3550T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Phe1184Leu",
        "hgvsWellDefined": "NP_009228.2:p.Phe1184Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.788-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.788-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.788-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916000005",
      "coordinates": [
        {
          "allele": "C",
          "end": 3923,
          "referenceAllele": "T",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Phe1231Leu",
        "hgvsWellDefined": "NP_009231.2:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3827,
          "referenceAllele": "T",
          "start": 3826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.3827T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA168299",
      "coordinates": [
        {
          "allele": "C",
          "end": 3804,
          "referenceAllele": "T",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Phe1231Leu",
        "hgvsWellDefined": "NP_009225.1:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3691T>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3691T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Phe1231Leu"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Phe1231Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829693279",
      "coordinates": [
        {
          "allele": "C",
          "end": 3744,
          "referenceAllele": "T",
          "start": 3743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.3550T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Phe1184Leu",
        "hgvsWellDefined": "NP_009228.2:p.Phe1184Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 807,
          "referenceAllele": "T",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.788-808T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-808T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916000005",
      "coordinates": [
        {
          "allele": "C",
          "end": 3804,
          "referenceAllele": "T",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Phe1231Leu",
        "hgvsWellDefined": "NP_009231.2:p.Phe1231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3868,
          "referenceAllele": "T",
          "start": 3867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.3868T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}