{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA003253",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46196[alleleid]",
        "alleleId": 46196,
        "preferredName": "NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37640",
        "RCV": [
          "RCV000031221",
          "RCV000048803",
          "RCV000131166",
          "RCV000148393",
          "RCV000212194",
          "RCV000589633",
          "RCV001353479",
          "RCV002250480"
        ],
        "variationId": 37640
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-41215920-G-A",
        "id": "17-41215920-G-A",
        "variant": "17:41215920 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41215920G>A?assembly=hg19",
        "id": "chr17:g.41215920G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43063903G>A?assembly=hg38",
        "id": "chr17:g.43063903G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28897696",
        "rs": 28897696
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41215920-G-A?dataset=gnomad_r2_1",
        "id": "17-41215920-G-A",
        "variant": "17:41215920 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43063903-G-A?dataset=gnomad_r3",
        "id": "17-43063903-G-A",
        "variant": "17:43063903 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43063903-G-A?dataset=gnomad_r4",
        "id": "17-43063903-G-A",
        "variant": "17:43063903 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43063903,
          "referenceAllele": "G",
          "start": 43063902
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43063903G>A",
        "CM000679.2:g.43063903G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41215920,
          "referenceAllele": "G",
          "start": 41215919
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41215920G>A",
        "CM000679.1:g.41215920G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38469446,
          "referenceAllele": "G",
          "start": 38469445
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38469446G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154081,
          "referenceAllele": "C",
          "start": 154080
        }
      ],
      "hgvs": [
        "NG_005905.2:g.154081C>T",
        "LRG_292:g.154081C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5239,
          "referenceAllele": "C",
          "start": 5238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5120C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Ala1707Val",
        "hgvsWellDefined": "ENSP00000417241.2:p.Ala1707Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5304,
          "referenceAllele": "C",
          "start": 5303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Ala1708Val",
        "hgvsWellDefined": "ENSP00000419274.2:p.Ala1708Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5110,
          "referenceAllele": "C",
          "start": 5109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.4997C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Ala1666Val",
        "hgvsWellDefined": "ENSP00000420201.2:p.Ala1666Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5226,
          "referenceAllele": "C",
          "start": 5225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Ala1706Val",
        "hgvsWellDefined": "ENSP00000417554.2:p.Ala1706Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5158,
          "referenceAllele": "C",
          "start": 5157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.5045C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Ala1682Val",
        "hgvsWellDefined": "ENSP00000419988.2:p.Ala1682Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.1811C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Ala604Val",
        "hgvsWellDefined": "ENSP00000420412.2:p.Ala604Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5204,
          "referenceAllele": "C",
          "start": 5203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.5045C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Ala1682Val",
        "hgvsWellDefined": "ENSP00000420781.2:p.Ala1682Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1673C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Ala558Val",
        "hgvsWellDefined": "ENSP00000418819.2:p.Ala558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5316,
          "referenceAllele": "C",
          "start": 5315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Ala1708Val",
        "hgvsWellDefined": "ENSP00000419103.2:p.Ala1708Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4483,
          "referenceAllele": "C",
          "start": 4482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4235C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Ala1412Val",
        "hgvsWellDefined": "ENSP00000418986.2:p.Ala1412Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5770,
          "referenceAllele": "C",
          "start": 5769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Ala1708Val",
        "hgvsWellDefined": "ENSP00000478114.2:p.Ala1708Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5139,
          "referenceAllele": "C",
          "start": 5138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.5000C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Ala1667Val",
        "hgvsWellDefined": "ENSP00000489431.2:p.Ala1667Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5302,
          "referenceAllele": "C",
          "start": 5301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5189C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Ala1730Val",
        "hgvsWellDefined": "ENSP00000496570.2:p.Ala1730Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2078,
          "referenceAllele": "C",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1673C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Ala558Val",
        "hgvsWellDefined": "ENSP00000494614.2:p.Ala558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5468,
          "referenceAllele": "C",
          "start": 5467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.4982C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Ala1661Val",
        "hgvsWellDefined": "ENSP00000498906.2:p.Ala1661Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1685C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Ala562Val",
        "hgvsWellDefined": "ENSP00000419481.2:p.Ala562Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5236,
          "referenceAllele": "C",
          "start": 5235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Ala1708Val",
        "hgvsWellDefined": "ENSP00000350283.3:p.Ala1708Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5123C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5123C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Ala1708Val"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Ala1708Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5418,
          "referenceAllele": "C",
          "start": 5417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5186C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Ala1729Val",
        "hgvsWellDefined": "ENSP00000418960.2:p.Ala1729Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1510C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1816,
          "referenceAllele": "C",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1697C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Ala566Val",
        "hgvsWellDefined": "ENSP00000312236.5:p.Ala566Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5242,
          "referenceAllele": "C",
          "start": 5241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Ala1708Val",
        "hgvsWellDefined": "ENSP00000350283.3:p.Ala1708Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5224,
          "referenceAllele": "C",
          "start": 5223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*4906C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*4906C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2005,
          "referenceAllele": "C",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.1811C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Ala604Val",
        "hgvsWellDefined": "ENSP00000417148.1:p.Ala604Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5418,
          "referenceAllele": "C",
          "start": 5417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5186C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Ala1729Val",
        "hgvsWellDefined": "ENSP00000418960.2:p.Ala1729Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.1811C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.Ala604Val",
        "hgvsWellDefined": "ENSP00000420412.1:p.Ala604Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.1436C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:p.Ala479Val",
        "hgvsWellDefined": "ENSP00000419481.1:p.Ala479Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.1811C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Ala604Val",
        "hgvsWellDefined": "ENSP00000420705.2:p.Ala604Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5214,
          "referenceAllele": "C",
          "start": 5213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.4982C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Ala1661Val",
        "hgvsWellDefined": "ENSP00000418775.1:p.Ala1661Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.1673C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:p.Ala558Val",
        "hgvsWellDefined": "ENSP00000418819.1:p.Ala558Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.53C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:p.Ala18Val",
        "hgvsWellDefined": "ENSP00000465818.1:p.Ala18Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.596C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Ala199Val",
        "hgvsWellDefined": "ENSP00000467329.1:p.Ala199Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 13712,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 13713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-98-13713C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-98-13713C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA167695",
      "coordinates": [
        {
          "allele": "T",
          "end": 5355,
          "referenceAllele": "C",
          "start": 5354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5123C>T",
        "LRG_292t1:c.5123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Ala1708Val",
        "hgvsWellDefined": "NP_009225.1:p.Ala1708Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829696822",
      "coordinates": [
        {
          "allele": "T",
          "end": 5263,
          "referenceAllele": "C",
          "start": 5262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.4982C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Ala1661Val",
        "hgvsWellDefined": "NP_009228.2:p.Ala1661Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829701115",
      "coordinates": [
        {
          "allele": "T",
          "end": 1830,
          "referenceAllele": "C",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.1811C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Ala604Val",
        "hgvsWellDefined": "NP_009229.2:p.Ala604Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994056",
      "coordinates": [
        {
          "allele": "T",
          "end": 2005,
          "referenceAllele": "C",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.1811C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Ala604Val",
        "hgvsWellDefined": "NP_009230.2:p.Ala604Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829708567",
      "coordinates": [
        {
          "allele": "T",
          "end": 5418,
          "referenceAllele": "C",
          "start": 5417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5186C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Ala1729Val",
        "hgvsWellDefined": "NP_009231.2:p.Ala1729Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5259,
          "referenceAllele": "C",
          "start": 5258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5259C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA167695",
      "coordinates": [
        {
          "allele": "T",
          "end": 5236,
          "referenceAllele": "C",
          "start": 5235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Ala1708Val",
        "hgvsWellDefined": "NP_009225.1:p.Ala1708Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5123C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5123C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Ala1708Val"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Ala1708Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829696822",
      "coordinates": [
        {
          "allele": "T",
          "end": 5176,
          "referenceAllele": "C",
          "start": 5175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.4982C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Ala1661Val",
        "hgvsWellDefined": "NP_009228.2:p.Ala1661Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994056",
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.1811C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Ala604Val",
        "hgvsWellDefined": "NP_009230.2:p.Ala604Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829708567",
      "coordinates": [
        {
          "allele": "T",
          "end": 5299,
          "referenceAllele": "C",
          "start": 5298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5186C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Ala1729Val",
        "hgvsWellDefined": "NP_009231.2:p.Ala1729Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5300,
          "referenceAllele": "C",
          "start": 5299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5300C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}