{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA500146299",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5073A>C (p.Thr1691=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4066739",
        "active": true,
        "id": "COSM4066739"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4066740",
        "active": true,
        "id": "COSM4066740"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=531557[alleleid]",
        "alleleId": 531557,
        "preferredName": "NM_007294.4(BRCA1):c.5073A>C (p.Thr1691=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/531289",
        "RCV": [
          "RCV000637492",
          "RCV001077999",
          "RCV001578273"
        ],
        "variationId": 531289
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41219626T>G?assembly=hg19",
        "id": "chr17:g.41219626T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43067609T>G?assembly=hg38",
        "id": "chr17:g.43067609T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356853",
        "rs": 80356853
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43067609,
          "referenceAllele": "T",
          "start": 43067608
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43067609T>G",
        "CM000679.2:g.43067609T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41219626,
          "referenceAllele": "T",
          "start": 41219625
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41219626T>G",
        "CM000679.1:g.41219626T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38473152,
          "referenceAllele": "T",
          "start": 38473151
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38473152T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 150375,
          "referenceAllele": "A",
          "start": 150374
        }
      ],
      "hgvs": [
        "NG_005905.2:g.150375A>C",
        "LRG_292:g.150375A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5189,
          "referenceAllele": "A",
          "start": 5188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5070A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Thr1690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5254,
          "referenceAllele": "A",
          "start": 5253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5073A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Thr1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5060,
          "referenceAllele": "A",
          "start": 5059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.4947A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Thr1649="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5176,
          "referenceAllele": "A",
          "start": 5175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5067A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Thr1689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5108,
          "referenceAllele": "A",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.4995A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Thr1665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1863,
          "referenceAllele": "A",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.1761A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Thr587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5154,
          "referenceAllele": "A",
          "start": 5153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.4995A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Thr1665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1855,
          "referenceAllele": "A",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1623A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Thr541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5266,
          "referenceAllele": "A",
          "start": 5265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5073A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Thr1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4433,
          "referenceAllele": "A",
          "start": 4432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4185A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Thr1395="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5720,
          "referenceAllele": "A",
          "start": 5719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5073A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Thr1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5089,
          "referenceAllele": "A",
          "start": 5088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.4950A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Thr1650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5252,
          "referenceAllele": "A",
          "start": 5251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5139A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Thr1713="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2028,
          "referenceAllele": "A",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1623A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Thr541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5418,
          "referenceAllele": "A",
          "start": 5417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.4932A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Thr1644="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1727,
          "referenceAllele": "A",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1635A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Thr545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5186,
          "referenceAllele": "A",
          "start": 5185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5073A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Thr1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5073A>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5073A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Thr1691="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Thr1691="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5368,
          "referenceAllele": "A",
          "start": 5367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5136A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Thr1712="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1460,
          "referenceAllele": "A",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1460A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1647A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Thr549="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5192,
          "referenceAllele": "A",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5073A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Thr1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5174,
          "referenceAllele": "A",
          "start": 5173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*4856A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*4856A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1955,
          "referenceAllele": "A",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.1761A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Thr587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5368,
          "referenceAllele": "A",
          "start": 5367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5136A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Thr1712="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 226,
          "referenceAllele": "A",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000472490.1:n.226A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1863,
          "referenceAllele": "A",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.1761A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.Thr587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1386,
          "referenceAllele": "A",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.1386A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:p.Thr462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1860,
          "referenceAllele": "A",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.1761A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Thr587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5164,
          "referenceAllele": "A",
          "start": 5163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.4932A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Thr1644="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1855,
          "referenceAllele": "A",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.1623A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:p.Thr541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 3657,
          "referenceAllele": "A",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 3658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-3658A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-3658A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "A",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.546A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Thr182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 17418,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 17419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-98-17419A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-98-17419A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829684755",
      "coordinates": [
        {
          "allele": "C",
          "end": 5305,
          "referenceAllele": "A",
          "start": 5304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5073A>C",
        "LRG_292t1:c.5073A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Thr1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829696496",
      "coordinates": [
        {
          "allele": "C",
          "end": 5213,
          "referenceAllele": "A",
          "start": 5212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.4932A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Thr1644="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829707415",
      "coordinates": [
        {
          "allele": "C",
          "end": 1780,
          "referenceAllele": "A",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.1761A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Thr587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714894",
      "coordinates": [
        {
          "allele": "C",
          "end": 1955,
          "referenceAllele": "A",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.1761A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Thr587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829708308",
      "coordinates": [
        {
          "allele": "C",
          "end": 5368,
          "referenceAllele": "A",
          "start": 5367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5136A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Thr1712="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5209,
          "referenceAllele": "A",
          "start": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5209A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829684755",
      "coordinates": [
        {
          "allele": "C",
          "end": 5186,
          "referenceAllele": "A",
          "start": 5185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5073A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Thr1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5073A>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5073A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Thr1691="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Thr1691="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829696496",
      "coordinates": [
        {
          "allele": "C",
          "end": 5126,
          "referenceAllele": "A",
          "start": 5125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.4932A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Thr1644="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714894",
      "coordinates": [
        {
          "allele": "C",
          "end": 1868,
          "referenceAllele": "A",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.1761A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Thr587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829708308",
      "coordinates": [
        {
          "allele": "C",
          "end": 5249,
          "referenceAllele": "A",
          "start": 5248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5136A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Thr1712="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5250,
          "referenceAllele": "A",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5250A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}