{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA003182",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46181[alleleid]",
        "alleleId": 46181,
        "preferredName": "NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37625",
        "RCV": [
          "RCV000031206",
          "RCV000048755",
          "RCV000163023",
          "RCV001588834",
          "RCV004554632"
        ],
        "variationId": 37625
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41219633A>C?assembly=hg19",
        "id": "chr17:g.41219633A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43067616A>C?assembly=hg38",
        "id": "chr17:g.43067616A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357061",
        "rs": 80357061
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 43067616,
          "referenceAllele": "A",
          "start": 43067615
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43067616A>C",
        "CM000679.2:g.43067616A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41219633,
          "referenceAllele": "A",
          "start": 41219632
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41219633A>C",
        "CM000679.1:g.41219633A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 38473159,
          "referenceAllele": "A",
          "start": 38473158
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38473159A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150368,
          "referenceAllele": "T",
          "start": 150367
        }
      ],
      "hgvs": [
        "NG_005905.2:g.150368T>G",
        "LRG_292:g.150368T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5182,
          "referenceAllele": "T",
          "start": 5181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5063T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Met1688Arg",
        "hgvsWellDefined": "ENSP00000417241.2:p.Met1688Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5247,
          "referenceAllele": "T",
          "start": 5246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5066T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Met1689Arg",
        "hgvsWellDefined": "ENSP00000419274.2:p.Met1689Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5053,
          "referenceAllele": "T",
          "start": 5052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.4940T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Met1647Arg",
        "hgvsWellDefined": "ENSP00000420201.2:p.Met1647Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5169,
          "referenceAllele": "T",
          "start": 5168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5060T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Met1687Arg",
        "hgvsWellDefined": "ENSP00000417554.2:p.Met1687Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5101,
          "referenceAllele": "T",
          "start": 5100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.4988T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Met1663Arg",
        "hgvsWellDefined": "ENSP00000419988.2:p.Met1663Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1856,
          "referenceAllele": "T",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.1754T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Met585Arg",
        "hgvsWellDefined": "ENSP00000420412.2:p.Met585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5147,
          "referenceAllele": "T",
          "start": 5146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.4988T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Met1663Arg",
        "hgvsWellDefined": "ENSP00000420781.2:p.Met1663Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1848,
          "referenceAllele": "T",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1616T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Met539Arg",
        "hgvsWellDefined": "ENSP00000418819.2:p.Met539Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5259,
          "referenceAllele": "T",
          "start": 5258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5066T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Met1689Arg",
        "hgvsWellDefined": "ENSP00000419103.2:p.Met1689Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4426,
          "referenceAllele": "T",
          "start": 4425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4178T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Met1393Arg",
        "hgvsWellDefined": "ENSP00000418986.2:p.Met1393Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5713,
          "referenceAllele": "T",
          "start": 5712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5066T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Met1689Arg",
        "hgvsWellDefined": "ENSP00000478114.2:p.Met1689Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5082,
          "referenceAllele": "T",
          "start": 5081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.4943T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Met1648Arg",
        "hgvsWellDefined": "ENSP00000489431.2:p.Met1648Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5245,
          "referenceAllele": "T",
          "start": 5244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5132T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Met1711Arg",
        "hgvsWellDefined": "ENSP00000496570.2:p.Met1711Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2021,
          "referenceAllele": "T",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1616T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Met539Arg",
        "hgvsWellDefined": "ENSP00000494614.2:p.Met539Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5411,
          "referenceAllele": "T",
          "start": 5410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.4925T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Met1642Arg",
        "hgvsWellDefined": "ENSP00000498906.2:p.Met1642Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1720,
          "referenceAllele": "T",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1628T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Met543Arg",
        "hgvsWellDefined": "ENSP00000419481.2:p.Met543Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5179,
          "referenceAllele": "T",
          "start": 5178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5066T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Met1689Arg",
        "hgvsWellDefined": "ENSP00000350283.3:p.Met1689Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5066T>G"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5066T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Met1689Arg"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Met1689Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5361,
          "referenceAllele": "T",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5129T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Met1710Arg",
        "hgvsWellDefined": "ENSP00000418960.2:p.Met1710Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1453T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1759,
          "referenceAllele": "T",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1640T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Met547Arg",
        "hgvsWellDefined": "ENSP00000312236.5:p.Met547Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5185,
          "referenceAllele": "T",
          "start": 5184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5066T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Met1689Arg",
        "hgvsWellDefined": "ENSP00000350283.3:p.Met1689Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5167,
          "referenceAllele": "T",
          "start": 5166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*4849T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*4849T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1948,
          "referenceAllele": "T",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.1754T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Met585Arg",
        "hgvsWellDefined": "ENSP00000417148.1:p.Met585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5361,
          "referenceAllele": "T",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5129T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Met1710Arg",
        "hgvsWellDefined": "ENSP00000418960.2:p.Met1710Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "referenceAllele": "T",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000472490.1:n.219T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1856,
          "referenceAllele": "T",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.1754T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.Met585Arg",
        "hgvsWellDefined": "ENSP00000420412.1:p.Met585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1379,
          "referenceAllele": "T",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.1379T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:p.Met460Arg",
        "hgvsWellDefined": "ENSP00000419481.1:p.Met460Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1853,
          "referenceAllele": "T",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.1754T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Met585Arg",
        "hgvsWellDefined": "ENSP00000420705.2:p.Met585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5157,
          "referenceAllele": "T",
          "start": 5156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.4925T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Met1642Arg",
        "hgvsWellDefined": "ENSP00000418775.1:p.Met1642Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1848,
          "referenceAllele": "T",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.1616T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:p.Met539Arg",
        "hgvsWellDefined": "ENSP00000418819.1:p.Met539Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 3664,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-3665T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-3665T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.539T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Met180Arg",
        "hgvsWellDefined": "ENSP00000467329.1:p.Met180Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 17425,
          "referenceAllele": "T",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 17426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-98-17426T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-98-17426T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA187274",
      "coordinates": [
        {
          "allele": "G",
          "end": 5298,
          "referenceAllele": "T",
          "start": 5297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5066T>G",
        "LRG_292t1:c.5066T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Met1689Arg",
        "hgvsWellDefined": "NP_009225.1:p.Met1689Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829696479",
      "coordinates": [
        {
          "allele": "G",
          "end": 5206,
          "referenceAllele": "T",
          "start": 5205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.4925T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Met1642Arg",
        "hgvsWellDefined": "NP_009228.2:p.Met1642Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829707391",
      "coordinates": [
        {
          "allele": "G",
          "end": 1773,
          "referenceAllele": "T",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.1754T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Met585Arg",
        "hgvsWellDefined": "NP_009229.2:p.Met585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915993921",
      "coordinates": [
        {
          "allele": "G",
          "end": 1948,
          "referenceAllele": "T",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.1754T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Met585Arg",
        "hgvsWellDefined": "NP_009230.2:p.Met585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829708285",
      "coordinates": [
        {
          "allele": "G",
          "end": 5361,
          "referenceAllele": "T",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5129T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Met1710Arg",
        "hgvsWellDefined": "NP_009231.2:p.Met1710Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5202,
          "referenceAllele": "T",
          "start": 5201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5202T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA187274",
      "coordinates": [
        {
          "allele": "G",
          "end": 5179,
          "referenceAllele": "T",
          "start": 5178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5066T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Met1689Arg",
        "hgvsWellDefined": "NP_009225.1:p.Met1689Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5066T>G"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5066T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Met1689Arg"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Met1689Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829696479",
      "coordinates": [
        {
          "allele": "G",
          "end": 5119,
          "referenceAllele": "T",
          "start": 5118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.4925T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Met1642Arg",
        "hgvsWellDefined": "NP_009228.2:p.Met1642Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915993921",
      "coordinates": [
        {
          "allele": "G",
          "end": 1861,
          "referenceAllele": "T",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.1754T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Met585Arg",
        "hgvsWellDefined": "NP_009230.2:p.Met585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829708285",
      "coordinates": [
        {
          "allele": "G",
          "end": 5242,
          "referenceAllele": "T",
          "start": 5241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5129T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Met1710Arg",
        "hgvsWellDefined": "NP_009231.2:p.Met1710Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5243,
          "referenceAllele": "T",
          "start": 5242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5243T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}