{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2260771396",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.5005G= (p.Ala1669=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357087",
        "rs": 80357087
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357938",
        "rs": 80357938
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 43067677,
          "referenceAllele": "C",
          "start": 43067676
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43067677C=",
        "CM000679.2:g.43067677C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41219694,
          "referenceAllele": "C",
          "start": 41219693
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41219694C=",
        "CM000679.1:g.41219694C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 38473220,
          "referenceAllele": "C",
          "start": 38473219
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38473220C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150307,
          "referenceAllele": "G",
          "start": 150306
        }
      ],
      "hgvs": [
        "NG_005905.2:g.150307G=",
        "LRG_292:g.150307G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5121,
          "referenceAllele": "G",
          "start": 5120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.5002G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Ala1668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5186,
          "referenceAllele": "G",
          "start": 5185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.5005G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Ala1669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4992,
          "referenceAllele": "G",
          "start": 4991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.4879G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Ala1627="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5108,
          "referenceAllele": "G",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.4999G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Ala1667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5040,
          "referenceAllele": "G",
          "start": 5039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.4927G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Ala1643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1795,
          "referenceAllele": "G",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.1693G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Ala565="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5086,
          "referenceAllele": "G",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.4927G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Ala1643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "G",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1555G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Ala519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5198,
          "referenceAllele": "G",
          "start": 5197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.5005G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Ala1669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4365,
          "referenceAllele": "G",
          "start": 4364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4117G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Ala1373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5652,
          "referenceAllele": "G",
          "start": 5651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.5005G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Ala1669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5021,
          "referenceAllele": "G",
          "start": 5020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.4882G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Ala1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5184,
          "referenceAllele": "G",
          "start": 5183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5071G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Ala1691="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1960,
          "referenceAllele": "G",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1555G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Ala519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5350,
          "referenceAllele": "G",
          "start": 5349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.4864G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Ala1622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1567G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Ala523="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5118,
          "referenceAllele": "G",
          "start": 5117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.5005G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Ala1669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5005G="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5005G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Ala1669="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Ala1669="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5300,
          "referenceAllele": "G",
          "start": 5299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5068G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Ala1690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1392G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1698,
          "referenceAllele": "G",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1579G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Ala527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5124,
          "referenceAllele": "G",
          "start": 5123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.5005G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Ala1669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5106,
          "referenceAllele": "G",
          "start": 5105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*4788G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*4788G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.1693G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Ala565="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5300,
          "referenceAllele": "G",
          "start": 5299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5068G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Ala1690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000472490.1:n.158G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1795,
          "referenceAllele": "G",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.1693G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.Ala565="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.1318G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:p.Ala440="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1792,
          "referenceAllele": "G",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.1693G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Ala565="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5096,
          "referenceAllele": "G",
          "start": 5095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.4864G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Ala1622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "G",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.1555G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:p.Ala519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 3725,
          "referenceAllele": "G",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 3726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-3726G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-3726G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.478G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Ala160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 17486,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 17487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-98-17487G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-98-17487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829684584",
      "coordinates": [
        {
          "allele": "G",
          "end": 5237,
          "referenceAllele": "G",
          "start": 5236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.5005G=",
        "LRG_292t1:c.5005G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Ala1669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829696248",
      "coordinates": [
        {
          "allele": "G",
          "end": 5145,
          "referenceAllele": "G",
          "start": 5144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.4864G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Ala1622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829700852",
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.1693G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Ala565="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714564",
      "coordinates": [
        {
          "allele": "G",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.1693G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Ala565="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829707960",
      "coordinates": [
        {
          "allele": "G",
          "end": 5300,
          "referenceAllele": "G",
          "start": 5299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5068G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Ala1690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5141,
          "referenceAllele": "G",
          "start": 5140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5141G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829684584",
      "coordinates": [
        {
          "allele": "G",
          "end": 5118,
          "referenceAllele": "G",
          "start": 5117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.5005G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Ala1669="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.5005G="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.5005G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Ala1669="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Ala1669="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829696248",
      "coordinates": [
        {
          "allele": "G",
          "end": 5058,
          "referenceAllele": "G",
          "start": 5057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.4864G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Ala1622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714564",
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.1693G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Ala565="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829707960",
      "coordinates": [
        {
          "allele": "G",
          "end": 5181,
          "referenceAllele": "G",
          "start": 5180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5068G="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Ala1690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5182,
          "referenceAllele": "G",
          "start": 5181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5182G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}