{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA003686",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46236[alleleid]",
        "alleleId": 46236,
        "preferredName": "NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37680",
        "RCV": [
          "RCV000031261",
          "RCV000049030",
          "RCV000774925"
        ],
        "variationId": 37680
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41197776C>A?assembly=hg19",
        "id": "chr17:g.41197776C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43045759C>A?assembly=hg38",
        "id": "chr17:g.43045759C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356914",
        "rs": 80356914
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43045759,
          "referenceAllele": "C",
          "start": 43045758
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43045759C>A",
        "CM000679.2:g.43045759C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41197776,
          "referenceAllele": "C",
          "start": 41197775
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41197776C>A",
        "CM000679.1:g.41197776C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38451302,
          "referenceAllele": "C",
          "start": 38451301
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38451302C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172225,
          "referenceAllele": "G",
          "start": 172224
        }
      ],
      "hgvs": [
        "NG_005905.2:g.172225G>T",
        "LRG_292:g.172225G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5627,
          "referenceAllele": "G",
          "start": 5626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5508G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Trp1836Cys",
        "hgvsWellDefined": "ENSP00000417241.2:p.Trp1836Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5692,
          "referenceAllele": "G",
          "start": 5691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5511G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Trp1837Cys",
        "hgvsWellDefined": "ENSP00000419274.2:p.Trp1837Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5498,
          "referenceAllele": "G",
          "start": 5497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.5385G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Trp1795Cys",
        "hgvsWellDefined": "ENSP00000420201.2:p.Trp1795Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5614,
          "referenceAllele": "G",
          "start": 5613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5505G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Trp1835Cys",
        "hgvsWellDefined": "ENSP00000417554.2:p.Trp1835Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5546,
          "referenceAllele": "G",
          "start": 5545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.5433G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Trp1811Cys",
        "hgvsWellDefined": "ENSP00000419988.2:p.Trp1811Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2301,
          "referenceAllele": "G",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.2199G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Trp733Cys",
        "hgvsWellDefined": "ENSP00000420412.2:p.Trp733Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5592,
          "referenceAllele": "G",
          "start": 5591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.5433G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Trp1811Cys",
        "hgvsWellDefined": "ENSP00000420781.2:p.Trp1811Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2293,
          "referenceAllele": "G",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.2061G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Trp687Cys",
        "hgvsWellDefined": "ENSP00000418819.2:p.Trp687Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5704,
          "referenceAllele": "G",
          "start": 5703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5511G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Trp1837Cys",
        "hgvsWellDefined": "ENSP00000419103.2:p.Trp1837Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4871,
          "referenceAllele": "G",
          "start": 4870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4623G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Trp1541Cys",
        "hgvsWellDefined": "ENSP00000418986.2:p.Trp1541Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6158,
          "referenceAllele": "G",
          "start": 6157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5511G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Trp1837Cys",
        "hgvsWellDefined": "ENSP00000478114.2:p.Trp1837Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5527,
          "referenceAllele": "G",
          "start": 5526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.5388G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Trp1796Cys",
        "hgvsWellDefined": "ENSP00000489431.2:p.Trp1796Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5690,
          "referenceAllele": "G",
          "start": 5689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5577G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Trp1859Cys",
        "hgvsWellDefined": "ENSP00000496570.2:p.Trp1859Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2466,
          "referenceAllele": "G",
          "start": 2465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.2061G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Trp687Cys",
        "hgvsWellDefined": "ENSP00000494614.2:p.Trp687Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5856,
          "referenceAllele": "G",
          "start": 5855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.5370G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Trp1790Cys",
        "hgvsWellDefined": "ENSP00000498906.2:p.Trp1790Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2165,
          "referenceAllele": "G",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.2073G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Trp691Cys",
        "hgvsWellDefined": "ENSP00000419481.2:p.Trp691Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1394,
          "referenceAllele": "G",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700081.1:n.1394G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "referenceAllele": "G",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700082.1:n.875G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5624,
          "referenceAllele": "G",
          "start": 5623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5511G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Trp1837Cys",
        "hgvsWellDefined": "ENSP00000350283.3:p.Trp1837Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5511G>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5511G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Trp1837Cys"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Trp1837Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5806,
          "referenceAllele": "G",
          "start": 5805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5574G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Trp1858Cys",
        "hgvsWellDefined": "ENSP00000418960.2:p.Trp1858Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1898,
          "referenceAllele": "G",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1898G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2204,
          "referenceAllele": "G",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.2085G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Trp695Cys",
        "hgvsWellDefined": "ENSP00000312236.5:p.Trp695Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5630,
          "referenceAllele": "G",
          "start": 5629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5511G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Trp1837Cys",
        "hgvsWellDefined": "ENSP00000350283.3:p.Trp1837Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5612,
          "referenceAllele": "G",
          "start": 5611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*5294G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*5294G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2319,
          "referenceAllele": "G",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.*25G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.*25G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5806,
          "referenceAllele": "G",
          "start": 5805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5574G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Trp1858Cys",
        "hgvsWellDefined": "ENSP00000418960.2:p.Trp1858Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2298,
          "referenceAllele": "G",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.2199G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Trp733Cys",
        "hgvsWellDefined": "ENSP00000420705.2:p.Trp733Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5602,
          "referenceAllele": "G",
          "start": 5601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.5370G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Trp1790Cys",
        "hgvsWellDefined": "ENSP00000418775.1:p.Trp1790Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.441G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:p.Trp147Cys",
        "hgvsWellDefined": "ENSP00000465818.1:p.Trp147Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.984G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Trp328Cys",
        "hgvsWellDefined": "ENSP00000467329.1:p.Trp328Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.210G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:p.Trp70Cys",
        "hgvsWellDefined": "ENSP00000465347.1:p.Trp70Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA260738",
      "coordinates": [
        {
          "allele": "T",
          "end": 5743,
          "referenceAllele": "G",
          "start": 5742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5511G>T",
        "LRG_292t1:c.5511G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Trp1837Cys",
        "hgvsWellDefined": "NP_009225.1:p.Trp1837Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829698505",
      "coordinates": [
        {
          "allele": "T",
          "end": 5651,
          "referenceAllele": "G",
          "start": 5650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.5370G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Trp1790Cys",
        "hgvsWellDefined": "NP_009228.2:p.Trp1790Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992565",
      "coordinates": [
        {
          "allele": "T",
          "end": 2218,
          "referenceAllele": "G",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.2199G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Trp733Cys",
        "hgvsWellDefined": "NP_009229.2:p.Trp733Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2319,
          "referenceAllele": "G",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.*25G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.*25G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829711284",
      "coordinates": [
        {
          "allele": "T",
          "end": 5806,
          "referenceAllele": "G",
          "start": 5805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5574G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Trp1858Cys",
        "hgvsWellDefined": "NP_009231.2:p.Trp1858Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5647,
          "referenceAllele": "G",
          "start": 5646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5647G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA260738",
      "coordinates": [
        {
          "allele": "T",
          "end": 5624,
          "referenceAllele": "G",
          "start": 5623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5511G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Trp1837Cys",
        "hgvsWellDefined": "NP_009225.1:p.Trp1837Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5511G>T"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5511G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Trp1837Cys"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Trp1837Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829698505",
      "coordinates": [
        {
          "allele": "T",
          "end": 5564,
          "referenceAllele": "G",
          "start": 5563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.5370G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Trp1790Cys",
        "hgvsWellDefined": "NP_009228.2:p.Trp1790Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2232,
          "referenceAllele": "G",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.*25G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.*25G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829711284",
      "coordinates": [
        {
          "allele": "T",
          "end": 5687,
          "referenceAllele": "G",
          "start": 5686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5574G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Trp1858Cys",
        "hgvsWellDefined": "NP_009231.2:p.Trp1858Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5688,
          "referenceAllele": "G",
          "start": 5687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5688G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}