{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10590739",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=531276[alleleid]",
        "alleleId": 531276,
        "preferredName": "NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/531438",
        "RCV": [
          "RCV000637802",
          "RCV001076846"
        ],
        "variationId": 531438
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41201181C>G?assembly=hg19",
        "id": "chr17:g.41201181C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43049164C>G?assembly=hg38",
        "id": "chr17:g.43049164C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357069",
        "rs": 80357069
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43049164,
          "referenceAllele": "C",
          "start": 43049163
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43049164C>G",
        "CM000679.2:g.43049164C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41201181,
          "referenceAllele": "C",
          "start": 41201180
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41201181C>G",
        "CM000679.1:g.41201181C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38454707,
          "referenceAllele": "C",
          "start": 38454706
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38454707C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 168820,
          "referenceAllele": "G",
          "start": 168819
        }
      ],
      "hgvs": [
        "NG_005905.2:g.168820G>C",
        "LRG_292:g.168820G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5479,
          "referenceAllele": "G",
          "start": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5360G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Gly1787Ala",
        "hgvsWellDefined": "ENSP00000417241.2:p.Gly1787Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5544,
          "referenceAllele": "G",
          "start": 5543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5363G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Gly1788Ala",
        "hgvsWellDefined": "ENSP00000419274.2:p.Gly1788Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5350,
          "referenceAllele": "G",
          "start": 5349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.5237G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Gly1746Ala",
        "hgvsWellDefined": "ENSP00000420201.2:p.Gly1746Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5466,
          "referenceAllele": "G",
          "start": 5465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5357G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Gly1786Ala",
        "hgvsWellDefined": "ENSP00000417554.2:p.Gly1786Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5398,
          "referenceAllele": "G",
          "start": 5397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.5285G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Gly1762Ala",
        "hgvsWellDefined": "ENSP00000419988.2:p.Gly1762Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2153,
          "referenceAllele": "G",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.2051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Gly684Ala",
        "hgvsWellDefined": "ENSP00000420412.2:p.Gly684Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5444,
          "referenceAllele": "G",
          "start": 5443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.5285G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Gly1762Ala",
        "hgvsWellDefined": "ENSP00000420781.2:p.Gly1762Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2145,
          "referenceAllele": "G",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1913G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Gly638Ala",
        "hgvsWellDefined": "ENSP00000418819.2:p.Gly638Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5556,
          "referenceAllele": "G",
          "start": 5555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5363G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Gly1788Ala",
        "hgvsWellDefined": "ENSP00000419103.2:p.Gly1788Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4723,
          "referenceAllele": "G",
          "start": 4722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4475G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Gly1492Ala",
        "hgvsWellDefined": "ENSP00000418986.2:p.Gly1492Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6010,
          "referenceAllele": "G",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5363G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Gly1788Ala",
        "hgvsWellDefined": "ENSP00000478114.2:p.Gly1788Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5379,
          "referenceAllele": "G",
          "start": 5378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.5240G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Gly1747Ala",
        "hgvsWellDefined": "ENSP00000489431.2:p.Gly1747Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5542,
          "referenceAllele": "G",
          "start": 5541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5429G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Gly1810Ala",
        "hgvsWellDefined": "ENSP00000496570.2:p.Gly1810Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2318,
          "referenceAllele": "G",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1913G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Gly638Ala",
        "hgvsWellDefined": "ENSP00000494614.2:p.Gly638Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5708,
          "referenceAllele": "G",
          "start": 5707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.5222G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Gly1741Ala",
        "hgvsWellDefined": "ENSP00000498906.2:p.Gly1741Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2017,
          "referenceAllele": "G",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1925G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Gly642Ala",
        "hgvsWellDefined": "ENSP00000419481.2:p.Gly642Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "referenceAllele": "G",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700081.1:n.1246G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5476,
          "referenceAllele": "G",
          "start": 5475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5363G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Gly1788Ala",
        "hgvsWellDefined": "ENSP00000350283.3:p.Gly1788Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5363G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5363G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Gly1788Ala"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Gly1788Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5658,
          "referenceAllele": "G",
          "start": 5657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5426G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Gly1809Ala",
        "hgvsWellDefined": "ENSP00000418960.2:p.Gly1809Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "G",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1750G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2056,
          "referenceAllele": "G",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1937G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Gly646Ala",
        "hgvsWellDefined": "ENSP00000312236.5:p.Gly646Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5482,
          "referenceAllele": "G",
          "start": 5481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5363G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Gly1788Ala",
        "hgvsWellDefined": "ENSP00000350283.3:p.Gly1788Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5464,
          "referenceAllele": "G",
          "start": 5463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*5146G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*5146G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2214,
          "endIntronDirection": "-",
          "endIntronOffset": 1460,
          "referenceAllele": "G",
          "start": 2214,
          "startIntronDirection": "-",
          "startIntronOffset": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.2021-1461G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.2021-1461G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5658,
          "referenceAllele": "G",
          "start": 5657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5426G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Gly1809Ala",
        "hgvsWellDefined": "ENSP00000418960.2:p.Gly1809Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2150,
          "referenceAllele": "G",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.2051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Gly684Ala",
        "hgvsWellDefined": "ENSP00000420705.2:p.Gly684Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5454,
          "referenceAllele": "G",
          "start": 5453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.5222G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Gly1741Ala",
        "hgvsWellDefined": "ENSP00000418775.1:p.Gly1741Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 437,
          "referenceAllele": "G",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.293G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:p.Gly98Ala",
        "hgvsWellDefined": "ENSP00000465818.1:p.Gly98Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.836G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Gly279Ala",
        "hgvsWellDefined": "ENSP00000467329.1:p.Gly279Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.62G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:p.Gly21Ala",
        "hgvsWellDefined": "ENSP00000465347.1:p.Gly21Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658820536",
      "coordinates": [
        {
          "allele": "C",
          "end": 5595,
          "referenceAllele": "G",
          "start": 5594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5363G>C",
        "LRG_292t1:c.5363G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Gly1788Ala",
        "hgvsWellDefined": "NP_009225.1:p.Gly1788Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829697907",
      "coordinates": [
        {
          "allele": "C",
          "end": 5503,
          "referenceAllele": "G",
          "start": 5502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.5222G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Gly1741Ala",
        "hgvsWellDefined": "NP_009228.2:p.Gly1741Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992377",
      "coordinates": [
        {
          "allele": "C",
          "end": 2070,
          "referenceAllele": "G",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.2051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Gly684Ala",
        "hgvsWellDefined": "NP_009229.2:p.Gly684Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2214,
          "endIntronDirection": "-",
          "endIntronOffset": 1460,
          "referenceAllele": "G",
          "start": 2214,
          "startIntronDirection": "-",
          "startIntronOffset": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.2021-1461G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.2021-1461G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829710310",
      "coordinates": [
        {
          "allele": "C",
          "end": 5658,
          "referenceAllele": "G",
          "start": 5657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5426G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Gly1809Ala",
        "hgvsWellDefined": "NP_009231.2:p.Gly1809Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5499,
          "referenceAllele": "G",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5499G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658820536",
      "coordinates": [
        {
          "allele": "C",
          "end": 5476,
          "referenceAllele": "G",
          "start": 5475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5363G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Gly1788Ala",
        "hgvsWellDefined": "NP_009225.1:p.Gly1788Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5363G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5363G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Gly1788Ala"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Gly1788Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829697907",
      "coordinates": [
        {
          "allele": "C",
          "end": 5416,
          "referenceAllele": "G",
          "start": 5415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.5222G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Gly1741Ala",
        "hgvsWellDefined": "NP_009228.2:p.Gly1741Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2127,
          "endIntronDirection": "-",
          "endIntronOffset": 1460,
          "referenceAllele": "G",
          "start": 2127,
          "startIntronDirection": "-",
          "startIntronOffset": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.2021-1461G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.2021-1461G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829710310",
      "coordinates": [
        {
          "allele": "C",
          "end": 5539,
          "referenceAllele": "G",
          "start": 5538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5426G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Gly1809Ala",
        "hgvsWellDefined": "NP_009231.2:p.Gly1809Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5540,
          "referenceAllele": "G",
          "start": 5539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5540G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}