{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10591405",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5057A>T (p.His1686Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=854059[alleleid]",
        "alleleId": 854059,
        "preferredName": "NM_007294.4(BRCA1):c.5057A>T (p.His1686Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/867584",
        "RCV": [
          "RCV001076301"
        ],
        "variationId": 867584
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41219642T>A?assembly=hg19",
        "id": "chr17:g.41219642T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43067625T>A?assembly=hg38",
        "id": "chr17:g.43067625T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730882166",
        "rs": 730882166
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43067625,
          "referenceAllele": "T",
          "start": 43067624
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43067625T>A",
        "CM000679.2:g.43067625T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41219642,
          "referenceAllele": "T",
          "start": 41219641
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41219642T>A",
        "CM000679.1:g.41219642T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38473168,
          "referenceAllele": "T",
          "start": 38473167
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38473168T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150359,
          "referenceAllele": "A",
          "start": 150358
        }
      ],
      "hgvs": [
        "NG_005905.2:g.150359A>T",
        "LRG_292:g.150359A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5173,
          "referenceAllele": "A",
          "start": 5172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5054A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.His1685Leu",
        "hgvsWellDefined": "ENSP00000417241.2:p.His1685Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5238,
          "referenceAllele": "A",
          "start": 5237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5057A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.His1686Leu",
        "hgvsWellDefined": "ENSP00000419274.2:p.His1686Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5044,
          "referenceAllele": "A",
          "start": 5043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.4931A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.His1644Leu",
        "hgvsWellDefined": "ENSP00000420201.2:p.His1644Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5160,
          "referenceAllele": "A",
          "start": 5159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5051A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.His1684Leu",
        "hgvsWellDefined": "ENSP00000417554.2:p.His1684Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5092,
          "referenceAllele": "A",
          "start": 5091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.4979A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.His1660Leu",
        "hgvsWellDefined": "ENSP00000419988.2:p.His1660Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1847,
          "referenceAllele": "A",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.1745A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.His582Leu",
        "hgvsWellDefined": "ENSP00000420412.2:p.His582Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5138,
          "referenceAllele": "A",
          "start": 5137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.4979A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.His1660Leu",
        "hgvsWellDefined": "ENSP00000420781.2:p.His1660Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1839,
          "referenceAllele": "A",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1607A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.His536Leu",
        "hgvsWellDefined": "ENSP00000418819.2:p.His536Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5250,
          "referenceAllele": "A",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5057A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.His1686Leu",
        "hgvsWellDefined": "ENSP00000419103.2:p.His1686Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4417,
          "referenceAllele": "A",
          "start": 4416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4169A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.His1390Leu",
        "hgvsWellDefined": "ENSP00000418986.2:p.His1390Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5704,
          "referenceAllele": "A",
          "start": 5703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5057A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.His1686Leu",
        "hgvsWellDefined": "ENSP00000478114.2:p.His1686Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5073,
          "referenceAllele": "A",
          "start": 5072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.4934A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.His1645Leu",
        "hgvsWellDefined": "ENSP00000489431.2:p.His1645Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5236,
          "referenceAllele": "A",
          "start": 5235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5123A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.His1708Leu",
        "hgvsWellDefined": "ENSP00000496570.2:p.His1708Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2012,
          "referenceAllele": "A",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1607A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.His536Leu",
        "hgvsWellDefined": "ENSP00000494614.2:p.His536Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5402,
          "referenceAllele": "A",
          "start": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.4916A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.His1639Leu",
        "hgvsWellDefined": "ENSP00000498906.2:p.His1639Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1711,
          "referenceAllele": "A",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1619A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.His540Leu",
        "hgvsWellDefined": "ENSP00000419481.2:p.His540Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5170,
          "referenceAllele": "A",
          "start": 5169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5057A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.His1686Leu",
        "hgvsWellDefined": "ENSP00000350283.3:p.His1686Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5057A>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5057A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.His1686Leu"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.His1686Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5352,
          "referenceAllele": "A",
          "start": 5351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5120A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.His1707Leu",
        "hgvsWellDefined": "ENSP00000418960.2:p.His1707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "A",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1444A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1750,
          "referenceAllele": "A",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1631A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.His544Leu",
        "hgvsWellDefined": "ENSP00000312236.5:p.His544Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5176,
          "referenceAllele": "A",
          "start": 5175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5057A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.His1686Leu",
        "hgvsWellDefined": "ENSP00000350283.3:p.His1686Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5158,
          "referenceAllele": "A",
          "start": 5157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*4840A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*4840A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1939,
          "referenceAllele": "A",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.1745A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.His582Leu",
        "hgvsWellDefined": "ENSP00000417148.1:p.His582Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5352,
          "referenceAllele": "A",
          "start": 5351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5120A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.His1707Leu",
        "hgvsWellDefined": "ENSP00000418960.2:p.His1707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "referenceAllele": "A",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000472490.1:n.210A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1847,
          "referenceAllele": "A",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.1745A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.His582Leu",
        "hgvsWellDefined": "ENSP00000420412.1:p.His582Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1370,
          "referenceAllele": "A",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.1370A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:p.His457Leu",
        "hgvsWellDefined": "ENSP00000419481.1:p.His457Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1844,
          "referenceAllele": "A",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.1745A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.His582Leu",
        "hgvsWellDefined": "ENSP00000420705.2:p.His582Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5148,
          "referenceAllele": "A",
          "start": 5147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.4916A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.His1639Leu",
        "hgvsWellDefined": "ENSP00000418775.1:p.His1639Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1839,
          "referenceAllele": "A",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.1607A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:p.His536Leu",
        "hgvsWellDefined": "ENSP00000418819.1:p.His536Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 3673,
          "referenceAllele": "A",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-3674A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-3674A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "A",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.530A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.His177Leu",
        "hgvsWellDefined": "ENSP00000467329.1:p.His177Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 17434,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 17435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-98-17435A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-98-17435A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579983466",
      "coordinates": [
        {
          "allele": "T",
          "end": 5289,
          "referenceAllele": "A",
          "start": 5288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5057A>T",
        "LRG_292t1:c.5057A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.His1686Leu",
        "hgvsWellDefined": "NP_009225.1:p.His1686Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829696438",
      "coordinates": [
        {
          "allele": "T",
          "end": 5197,
          "referenceAllele": "A",
          "start": 5196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.4916A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.His1639Leu",
        "hgvsWellDefined": "NP_009228.2:p.His1639Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829700992",
      "coordinates": [
        {
          "allele": "T",
          "end": 1764,
          "referenceAllele": "A",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.1745A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.His582Leu",
        "hgvsWellDefined": "NP_009229.2:p.His582Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717905",
      "coordinates": [
        {
          "allele": "T",
          "end": 1939,
          "referenceAllele": "A",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.1745A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.His582Leu",
        "hgvsWellDefined": "NP_009230.2:p.His582Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829708261",
      "coordinates": [
        {
          "allele": "T",
          "end": 5352,
          "referenceAllele": "A",
          "start": 5351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5120A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.His1707Leu",
        "hgvsWellDefined": "NP_009231.2:p.His1707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5193,
          "referenceAllele": "A",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5193A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579983466",
      "coordinates": [
        {
          "allele": "T",
          "end": 5170,
          "referenceAllele": "A",
          "start": 5169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5057A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.His1686Leu",
        "hgvsWellDefined": "NP_009225.1:p.His1686Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5057A>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5057A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.His1686Leu"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.His1686Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829696438",
      "coordinates": [
        {
          "allele": "T",
          "end": 5110,
          "referenceAllele": "A",
          "start": 5109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.4916A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.His1639Leu",
        "hgvsWellDefined": "NP_009228.2:p.His1639Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717905",
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "A",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.1745A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.His582Leu",
        "hgvsWellDefined": "NP_009230.2:p.His582Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829708261",
      "coordinates": [
        {
          "allele": "T",
          "end": 5233,
          "referenceAllele": "A",
          "start": 5232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5120A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.His1707Leu",
        "hgvsWellDefined": "NP_009231.2:p.His1707Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5234,
          "referenceAllele": "A",
          "start": 5233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5234A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}