{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA002865",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46150[alleleid]",
        "alleleId": 46150,
        "preferredName": "NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37594",
        "RCV": [
          "RCV000031175",
          "RCV000240737",
          "RCV000479398",
          "RCV000458634",
          "RCV000764128",
          "RCV000219296",
          "RCV001357250",
          "RCV002267803"
        ],
        "variationId": 37594
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-41251893-T-G",
        "id": "17-41251893-T-G",
        "variant": "17:41251893 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41251893T>G?assembly=hg19",
        "id": "chr17:g.41251893T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43099876T>G?assembly=hg38",
        "id": "chr17:g.43099876T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397507233",
        "rs": 397507233
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41251893-T-G?dataset=gnomad_r2_1",
        "id": "17-41251893-T-G",
        "variant": "17:41251893 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43099876-T-G?dataset=gnomad_r3",
        "id": "17-43099876-T-G",
        "variant": "17:43099876 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43099876-T-G?dataset=gnomad_r4",
        "id": "17-43099876-T-G",
        "variant": "17:43099876 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43099876,
          "referenceAllele": "T",
          "start": 43099875
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43099876T>G",
        "CM000679.2:g.43099876T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41251893,
          "referenceAllele": "T",
          "start": 41251892
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41251893T>G",
        "CM000679.1:g.41251893T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38505419,
          "referenceAllele": "T",
          "start": 38505418
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38505419T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 118108,
          "referenceAllele": "A",
          "start": 118107
        }
      ],
      "hgvs": [
        "NG_005905.2:g.118108A>C",
        "LRG_292:g.118108A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "A",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.510A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 565,
          "referenceAllele": "A",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000417241.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 627,
          "referenceAllele": "A",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000419274.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 556,
          "referenceAllele": "A",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.443A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Glu148Ala",
        "hgvsWellDefined": "ENSP00000420201.2:p.Glu148Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.443A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Glu148Ala",
        "hgvsWellDefined": "ENSP00000417554.2:p.Glu148Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "A",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.368A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Glu123Ala",
        "hgvsWellDefined": "ENSP00000419988.2:p.Glu123Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.443A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Glu148Ala",
        "hgvsWellDefined": "ENSP00000420412.2:p.Glu148Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "A",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.368A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Glu123Ala",
        "hgvsWellDefined": "ENSP00000420781.2:p.Glu123Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "referenceAllele": "A",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.305A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Glu102Ala",
        "hgvsWellDefined": "ENSP00000418819.2:p.Glu102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 639,
          "referenceAllele": "A",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000419103.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 5015,
          "referenceAllele": "A",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 5016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.-218-5016A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:n.-218-5016A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1093,
          "referenceAllele": "A",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000478114.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 585,
          "referenceAllele": "A",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000489431.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 559,
          "referenceAllele": "A",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000496570.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "referenceAllele": "A",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.305A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Glu102Ala",
        "hgvsWellDefined": "ENSP00000494614.2:p.Glu102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 791,
          "referenceAllele": "A",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.305A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Glu102Ala",
        "hgvsWellDefined": "ENSP00000498906.2:p.Glu102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 538,
          "referenceAllele": "A",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000419481.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "referenceAllele": "A",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.365A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:p.Glu122Ala",
        "hgvsWellDefined": "ENSP00000514849.1:p.Glu122Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 632,
          "referenceAllele": "A",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*360A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*360A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "referenceAllele": "A",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700184.1:n.686A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 559,
          "referenceAllele": "A",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000350283.3:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.446A>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.446A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Glu149Ala"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Glu149Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "A",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000418960.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000642945.1:c.*320A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495897.1:n.*320A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 791,
          "referenceAllele": "A",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.305A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:p.Glu102Ala",
        "hgvsWellDefined": "ENSP00000498906.1:p.Glu102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 565,
          "referenceAllele": "A",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000312236.5:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "A",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000326002.7:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 565,
          "referenceAllele": "A",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000350283.3:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 547,
          "referenceAllele": "A",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*229A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*229A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "referenceAllele": "A",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461798.5:c.*232A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417988.1:n.*232A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000417148.1:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 607,
          "referenceAllele": "A",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000419274.1:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "A",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000418960.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 166,
          "referenceAllele": "A",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.5:c.166A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.5:c.443A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.1:p.Glu148Ala",
        "hgvsWellDefined": "ENSP00000417554.1:p.Glu148Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "A",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.368A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:p.Glu123Ala",
        "hgvsWellDefined": "ENSP00000419988.1:p.Glu123Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.443A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.Glu148Ala",
        "hgvsWellDefined": "ENSP00000420412.1:p.Glu148Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "referenceAllele": "A",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.191A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:p.Glu64Ala",
        "hgvsWellDefined": "ENSP00000419481.1:p.Glu64Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "referenceAllele": "A",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.194A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:p.Glu65Ala",
        "hgvsWellDefined": "ENSP00000418212.1:p.Glu65Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000420705.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "referenceAllele": "A",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*382A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*382A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "referenceAllele": "A",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.305A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Glu102Ala",
        "hgvsWellDefined": "ENSP00000418775.1:p.Glu102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "referenceAllele": "A",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.305A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:p.Glu102Ala",
        "hgvsWellDefined": "ENSP00000418819.1:p.Glu102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 639,
          "referenceAllele": "A",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000419103.1:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 5015,
          "referenceAllele": "A",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 5016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.-218-5016A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:n.-218-5016A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 25306,
          "referenceAllele": "A",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 25305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.4+25306A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.4+25306A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 25354,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 25355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-25355A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-25355A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 25395,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 25394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+25395A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+25395A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 585,
          "referenceAllele": "A",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Glu149Ala",
        "hgvsWellDefined": "ENSP00000489431.1:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA260704",
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "A",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.446A>C",
        "LRG_292t1:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Glu149Ala",
        "hgvsWellDefined": "NP_009225.1:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829687015",
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "referenceAllele": "A",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.305A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Glu102Ala",
        "hgvsWellDefined": "NP_009228.2:p.Glu102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829699651",
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "referenceAllele": "A",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Glu149Ala",
        "hgvsWellDefined": "NP_009229.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829711264",
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Glu149Ala",
        "hgvsWellDefined": "NP_009230.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915995097",
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "A",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Glu149Ala",
        "hgvsWellDefined": "NP_009231.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 582,
          "referenceAllele": "A",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.582A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA260704",
      "coordinates": [
        {
          "allele": "C",
          "end": 559,
          "referenceAllele": "A",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Glu149Ala",
        "hgvsWellDefined": "NP_009225.1:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.446A>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.446A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Glu149Ala"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Glu149Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829687015",
      "coordinates": [
        {
          "allele": "C",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.305A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Glu102Ala",
        "hgvsWellDefined": "NP_009228.2:p.Glu102Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829711264",
      "coordinates": [
        {
          "allele": "C",
          "end": 553,
          "referenceAllele": "A",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Glu149Ala",
        "hgvsWellDefined": "NP_009230.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915995097",
      "coordinates": [
        {
          "allele": "C",
          "end": 559,
          "referenceAllele": "A",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.446A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Glu149Ala",
        "hgvsWellDefined": "NP_009231.2:p.Glu149Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 623,
          "referenceAllele": "A",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.623A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}