{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA002016",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.3074C>T (p.Thr1025Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=69433[alleleid]",
        "alleleId": 69433,
        "preferredName": "NM_007294.4(BRCA1):c.3074C>T (p.Thr1025Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/54766",
        "RCV": [
          "RCV000576961",
          "RCV002514242",
          "RCV002319434"
        ],
        "variationId": 54766
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41244474G>A?assembly=hg19",
        "id": "chr17:g.41244474G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43092457G>A?assembly=hg38",
        "id": "chr17:g.43092457G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397509034",
        "rs": 397509034
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43092457,
          "referenceAllele": "G",
          "start": 43092456
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43092457G>A",
        "CM000679.2:g.43092457G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41244474,
          "referenceAllele": "G",
          "start": 41244473
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41244474G>A",
        "CM000679.1:g.41244474G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38498000,
          "referenceAllele": "G",
          "start": 38497999
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38498000G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125527,
          "referenceAllele": "C",
          "start": 125526
        }
      ],
      "hgvs": [
        "NG_005905.2:g.125527C>T",
        "LRG_292:g.125527C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3138,
          "referenceAllele": "C",
          "start": 3137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.3138C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3193,
          "referenceAllele": "C",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Thr1025Ile",
        "hgvsWellDefined": "ENSP00000417241.2:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Thr1025Ile",
        "hgvsWellDefined": "ENSP00000419274.2:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3061,
          "referenceAllele": "C",
          "start": 3060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.2948C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Thr983Ile",
        "hgvsWellDefined": "ENSP00000420201.2:p.Thr983Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3180,
          "referenceAllele": "C",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.3071C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Thr1024Ile",
        "hgvsWellDefined": "ENSP00000417554.2:p.Thr1024Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3109,
          "referenceAllele": "C",
          "start": 3108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.2996C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Thr999Ile",
        "hgvsWellDefined": "ENSP00000419988.2:p.Thr999Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.785-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.785-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3155,
          "referenceAllele": "C",
          "start": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.2996C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Thr999Ile",
        "hgvsWellDefined": "ENSP00000420781.2:p.Thr999Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.647-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.647-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3267,
          "referenceAllele": "C",
          "start": 3266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Thr1025Ile",
        "hgvsWellDefined": "ENSP00000419103.2:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.2186C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Thr729Ile",
        "hgvsWellDefined": "ENSP00000418986.2:p.Thr729Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3721,
          "referenceAllele": "C",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Thr1025Ile",
        "hgvsWellDefined": "ENSP00000478114.2:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3090,
          "referenceAllele": "C",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.2951C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Thr984Ile",
        "hgvsWellDefined": "ENSP00000489431.2:p.Thr984Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3187,
          "referenceAllele": "C",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Thr1025Ile",
        "hgvsWellDefined": "ENSP00000496570.2:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.647-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.647-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3419,
          "referenceAllele": "C",
          "start": 3418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.2933C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Thr978Ile",
        "hgvsWellDefined": "ENSP00000498906.2:p.Thr978Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.665-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.665-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 798,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.707-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.707-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3187,
          "referenceAllele": "C",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Thr1025Ile",
        "hgvsWellDefined": "ENSP00000350283.3:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3074C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3074C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Thr1025Ile"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Thr1025Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3306,
          "referenceAllele": "C",
          "start": 3305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Thr1025Ile",
        "hgvsWellDefined": "ENSP00000418960.2:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.671-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.671-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3138,
          "referenceAllele": "C",
          "start": 3137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Thr1025Ile",
        "hgvsWellDefined": "ENSP00000326002.7:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3193,
          "referenceAllele": "C",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Thr1025Ile",
        "hgvsWellDefined": "ENSP00000350283.3:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3175,
          "referenceAllele": "C",
          "start": 3174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*2857C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*2857C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.788-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.788-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3306,
          "referenceAllele": "C",
          "start": 3305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Thr1025Ile",
        "hgvsWellDefined": "ENSP00000418960.2:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.785-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.785-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.410-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.410-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 412,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.413-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.413-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.788-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.788-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3165,
          "referenceAllele": "C",
          "start": 3164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.2933C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Thr978Ile",
        "hgvsWellDefined": "ENSP00000418775.1:p.Thr978Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.647-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.647-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 28505,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 28506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-28506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-28506C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 17935,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 17936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-17936C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-17936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 32814,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 32813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+32814C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+32814C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112921",
      "coordinates": [
        {
          "allele": "T",
          "end": 3306,
          "referenceAllele": "C",
          "start": 3305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.3074C>T",
        "LRG_292t1:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Thr1025Ile",
        "hgvsWellDefined": "NP_009225.1:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992172",
      "coordinates": [
        {
          "allele": "T",
          "end": 3214,
          "referenceAllele": "C",
          "start": 3213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.2933C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Thr978Ile",
        "hgvsWellDefined": "NP_009228.2:p.Thr978Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.788-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.788-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.788-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829721003",
      "coordinates": [
        {
          "allele": "T",
          "end": 3306,
          "referenceAllele": "C",
          "start": 3305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Thr1025Ile",
        "hgvsWellDefined": "NP_009231.2:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3210,
          "referenceAllele": "C",
          "start": 3209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.3210C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112921",
      "coordinates": [
        {
          "allele": "T",
          "end": 3187,
          "referenceAllele": "C",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Thr1025Ile",
        "hgvsWellDefined": "NP_009225.1:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3074C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3074C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Thr1025Ile"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Thr1025Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992172",
      "coordinates": [
        {
          "allele": "T",
          "end": 3127,
          "referenceAllele": "C",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.2933C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Thr978Ile",
        "hgvsWellDefined": "NP_009228.2:p.Thr978Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 1424,
          "referenceAllele": "C",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.788-1425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-1425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829721003",
      "coordinates": [
        {
          "allele": "T",
          "end": 3187,
          "referenceAllele": "C",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.3074C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Thr1025Ile",
        "hgvsWellDefined": "NP_009231.2:p.Thr1025Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3251,
          "referenceAllele": "C",
          "start": 3250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.3251C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}