{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2260772855",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.4883T= (p.Met1628=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4986854",
        "rs": 4986854
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2550910145",
        "rs": 2550910145
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43071031,
          "referenceAllele": "A",
          "start": 43071030
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43071031A=",
        "CM000679.2:g.43071031A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41223048,
          "referenceAllele": "A",
          "start": 41223047
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41223048A=",
        "CM000679.1:g.41223048A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38476574,
          "referenceAllele": "A",
          "start": 38476573
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38476574A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 146953,
          "referenceAllele": "T",
          "start": 146952
        }
      ],
      "hgvs": [
        "NG_005905.2:g.146953T=",
        "LRG_292:g.146953T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4999,
          "referenceAllele": "T",
          "start": 4998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.4880T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Met1627="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5064,
          "referenceAllele": "T",
          "start": 5063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.4883T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Met1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4870,
          "referenceAllele": "T",
          "start": 4869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.4757T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Met1586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4986,
          "referenceAllele": "T",
          "start": 4985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.4877T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Met1626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4918,
          "referenceAllele": "T",
          "start": 4917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.4805T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Met1602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1673,
          "referenceAllele": "T",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.1571T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Met524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4964,
          "referenceAllele": "T",
          "start": 4963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.4805T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Met1602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1665,
          "referenceAllele": "T",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1433T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Met478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5076,
          "referenceAllele": "T",
          "start": 5075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.4883T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Met1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4243,
          "referenceAllele": "T",
          "start": 4242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.3995T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Met1332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5530,
          "referenceAllele": "T",
          "start": 5529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.4883T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Met1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4899,
          "referenceAllele": "T",
          "start": 4898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.4760T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Met1587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5062,
          "referenceAllele": "T",
          "start": 5061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.4949T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Met1650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "T",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1433T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Met478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5228,
          "referenceAllele": "T",
          "start": 5227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.4742T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Met1581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1537,
          "referenceAllele": "T",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1445T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Met482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "T",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.1490T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:p.Met497="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4996,
          "referenceAllele": "T",
          "start": 4995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.4883T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Met1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.4883T="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.4883T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Met1628="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Met1628="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5178,
          "referenceAllele": "T",
          "start": 5177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.4946T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Met1649="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1270,
          "referenceAllele": "T",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1270T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1576,
          "referenceAllele": "T",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1457T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Met486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5002,
          "referenceAllele": "T",
          "start": 5001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.4883T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Met1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4984,
          "referenceAllele": "T",
          "start": 4983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*4666T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*4666T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1765,
          "referenceAllele": "T",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.1571T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Met524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5178,
          "referenceAllele": "T",
          "start": 5177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.4946T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Met1649="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "referenceAllele": "T",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000472490.1:n.36T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1673,
          "referenceAllele": "T",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.1571T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.Met524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "T",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.1196T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:p.Met399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1670,
          "referenceAllele": "T",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.1571T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Met524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4974,
          "referenceAllele": "T",
          "start": 4973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.4742T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Met1581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1665,
          "referenceAllele": "T",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.1433T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:p.Met478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 7079,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 7080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-7080T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-7080T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "referenceAllele": "T",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.356T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Met119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 20840,
          "referenceAllele": "T",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 20841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-98-20841T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-98-20841T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5115,
          "referenceAllele": "T",
          "start": 5114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.4883T=",
        "LRG_292t1:c.4883T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Met1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5023,
          "referenceAllele": "T",
          "start": 5022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.4742T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Met1581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "referenceAllele": "T",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.1571T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Met524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1765,
          "referenceAllele": "T",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.1571T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Met524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083953696",
      "coordinates": [
        {
          "allele": "T",
          "end": 5178,
          "referenceAllele": "T",
          "start": 5177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.4946T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Met1649="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "T",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5019T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4996,
          "referenceAllele": "T",
          "start": 4995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.4883T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Met1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.4883T="
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.4883T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Met1628="
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Met1628="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4936,
          "referenceAllele": "T",
          "start": 4935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.4742T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Met1581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.1571T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Met524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083953696",
      "coordinates": [
        {
          "allele": "T",
          "end": 5059,
          "referenceAllele": "T",
          "start": 5058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.4946T="
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Met1649="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5060,
          "referenceAllele": "T",
          "start": 5059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5060T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}