{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2260762797",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5335C= (p.Gln1779=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357590",
        "rs": 80357590
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397509267",
        "rs": 397509267
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 43049192,
          "referenceAllele": "G",
          "start": 43049191
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43049192G=",
        "CM000679.2:g.43049192G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41201209,
          "referenceAllele": "G",
          "start": 41201208
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41201209G=",
        "CM000679.1:g.41201209G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 38454735,
          "referenceAllele": "G",
          "start": 38454734
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38454735G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 168792,
          "referenceAllele": "C",
          "start": 168791
        }
      ],
      "hgvs": [
        "NG_005905.2:g.168792C=",
        "LRG_292:g.168792C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5451,
          "referenceAllele": "C",
          "start": 5450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5332C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Gln1778="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5516,
          "referenceAllele": "C",
          "start": 5515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Gln1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5322,
          "referenceAllele": "C",
          "start": 5321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.5209C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Gln1737="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5438,
          "referenceAllele": "C",
          "start": 5437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.5329C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Gln1777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5370,
          "referenceAllele": "C",
          "start": 5369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.5257C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Gln1753="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2125,
          "referenceAllele": "C",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.2023C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Gln675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5416,
          "referenceAllele": "C",
          "start": 5415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.5257C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Gln1753="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2117,
          "referenceAllele": "C",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1885C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Gln629="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5528,
          "referenceAllele": "C",
          "start": 5527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Gln1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4695,
          "referenceAllele": "C",
          "start": 4694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4447C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Gln1483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5982,
          "referenceAllele": "C",
          "start": 5981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Gln1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5351,
          "referenceAllele": "C",
          "start": 5350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.5212C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Gln1738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5514,
          "referenceAllele": "C",
          "start": 5513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5401C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Gln1801="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1885C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Gln629="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5680,
          "referenceAllele": "C",
          "start": 5679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.5194C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Gln1732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1989,
          "referenceAllele": "C",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1897C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Gln633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700081.1:n.1218C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5448,
          "referenceAllele": "C",
          "start": 5447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Gln1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5335C="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5335C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Gln1779="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Gln1779="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5630,
          "referenceAllele": "C",
          "start": 5629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5398C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Gln1800="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1722,
          "referenceAllele": "C",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1722C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1909C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Gln637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5454,
          "referenceAllele": "C",
          "start": 5453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Gln1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5436,
          "referenceAllele": "C",
          "start": 5435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*5118C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*5118C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2214,
          "endIntronDirection": "-",
          "endIntronOffset": 1488,
          "referenceAllele": "C",
          "start": 2214,
          "startIntronDirection": "-",
          "startIntronOffset": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.2021-1489C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.2021-1489C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5630,
          "referenceAllele": "C",
          "start": 5629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5398C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Gln1800="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2122,
          "referenceAllele": "C",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.2023C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Gln675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5426,
          "referenceAllele": "C",
          "start": 5425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.5194C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Gln1732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "referenceAllele": "C",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.265C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:p.Gln89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.808C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Gln270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.34C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:p.Gln12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829685401",
      "coordinates": [
        {
          "allele": "C",
          "end": 5567,
          "referenceAllele": "C",
          "start": 5566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5335C=",
        "LRG_292t1:c.5335C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Gln1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829697789",
      "coordinates": [
        {
          "allele": "C",
          "end": 5475,
          "referenceAllele": "C",
          "start": 5474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.5194C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Gln1732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829701662",
      "coordinates": [
        {
          "allele": "C",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.2023C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Gln675="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2214,
          "endIntronDirection": "-",
          "endIntronOffset": 1488,
          "referenceAllele": "C",
          "start": 2214,
          "startIntronDirection": "-",
          "startIntronOffset": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.2021-1489C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.2021-1489C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829710145",
      "coordinates": [
        {
          "allele": "C",
          "end": 5630,
          "referenceAllele": "C",
          "start": 5629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5398C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Gln1800="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5471,
          "referenceAllele": "C",
          "start": 5470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5471C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829685401",
      "coordinates": [
        {
          "allele": "C",
          "end": 5448,
          "referenceAllele": "C",
          "start": 5447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5335C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Gln1779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5335C="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5335C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Gln1779="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Gln1779="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829697789",
      "coordinates": [
        {
          "allele": "C",
          "end": 5388,
          "referenceAllele": "C",
          "start": 5387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.5194C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Gln1732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2127,
          "endIntronDirection": "-",
          "endIntronOffset": 1488,
          "referenceAllele": "C",
          "start": 2127,
          "startIntronDirection": "-",
          "startIntronOffset": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.2021-1489C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.2021-1489C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829710145",
      "coordinates": [
        {
          "allele": "C",
          "end": 5511,
          "referenceAllele": "C",
          "start": 5510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5398C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Gln1800="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5512,
          "referenceAllele": "C",
          "start": 5511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5512C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}