{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393850986",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2833916[alleleid]",
        "alleleId": 2833916,
        "preferredName": "NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2680189",
        "RCV": [
          "RCV003474381"
        ],
        "variationId": 2680189
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91354535C>A?assembly=hg19",
        "id": "chr15:g.91354535C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90811305C>A?assembly=hg38",
        "id": "chr15:g.90811305C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2151199869",
        "rs": 2151199869
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 90811305,
          "referenceAllele": "C",
          "start": 90811304
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90811305C>A",
        "CM000677.2:g.90811305C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 91354535,
          "referenceAllele": "C",
          "start": 91354534
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91354535C>A",
        "CM000677.1:g.91354535C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89155539,
          "referenceAllele": "C",
          "start": 89155538
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89155539C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98934,
          "referenceAllele": "C",
          "start": 98933
        }
      ],
      "hgvs": [
        "NG_007272.1:g.98934C>A",
        "LRG_20:g.98934C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4074,
          "referenceAllele": "C",
          "start": 4073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.3975C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Tyr1325Ter",
        "hgvsWellDefined": "ENSP00000347232.3:p.Tyr1325_Ser1417delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3975C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3975C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Tyr1325Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Tyr1325Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2548,
          "referenceAllele": "C",
          "start": 2547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560559.2:n.2548C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4057,
          "referenceAllele": "C",
          "start": 4056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.3975C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Tyr1325Ter",
        "hgvsWellDefined": "ENSP00000497646.1:p.Tyr1325_Lys1386delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyThrLysSerAspSerValAlaGlnAlaArgValGlnTrpHisAsnLeuGlySerLeuGlnProLeuProProValLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4051,
          "referenceAllele": "C",
          "start": 4050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.3975C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Tyr1325Ter",
        "hgvsWellDefined": "ENSP00000506117.1:p.Tyr1325_Ser1417delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4057,
          "referenceAllele": "C",
          "start": 4056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.3975C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Tyr1325Ter",
        "hgvsWellDefined": "ENSP00000506682.1:p.Tyr1325_Ser1372delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyTrpSerPheProMetLeuProArgLeuValSerAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4093,
          "referenceAllele": "C",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.3975C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Tyr1325Ter",
        "hgvsWellDefined": "ENSP00000347232.3:p.Tyr1325_Ser1417delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558825.5:n.1322C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4182,
          "referenceAllele": "C",
          "start": 4181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*2899C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*2899C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560136.5:n.2001C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3633,
          "referenceAllele": "C",
          "start": 3632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.3582C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Tyr1194Ter",
        "hgvsWellDefined": "ENSP00000454158.1:p.Tyr1194_Ser1286delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560821.1:n.395C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042037",
      "coordinates": [
        {
          "allele": "A",
          "end": 4093,
          "referenceAllele": "C",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.3975C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Tyr1325Ter",
        "hgvsWellDefined": "NP_000048.1:p.Tyr1325_Ser1417delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738869",
      "coordinates": [
        {
          "allele": "A",
          "end": 4203,
          "referenceAllele": "C",
          "start": 4202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.3975C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Tyr1325Ter",
        "hgvsWellDefined": "NP_001274175.1:p.Tyr1325_Ser1417delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826740136",
      "coordinates": [
        {
          "allele": "A",
          "end": 3700,
          "referenceAllele": "C",
          "start": 3699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.3582C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Tyr1194Ter",
        "hgvsWellDefined": "NP_001274176.1:p.Tyr1194_Ser1286delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741856104",
      "coordinates": [
        {
          "allele": "A",
          "end": 4259,
          "referenceAllele": "C",
          "start": 4258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.2850C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Tyr950Ter",
        "hgvsWellDefined": "NP_001274177.1:p.Tyr950_Ser1042delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2152,
          "referenceAllele": "C",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_006720632.2:c.2013C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720695.1:p.Tyr671Ter",
        "hgvsWellDefined": "XP_006720695.1:p.Tyr671_Ser763delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3103,
          "referenceAllele": "C",
          "start": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.2661C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Tyr887Ter",
        "hgvsWellDefined": "XP_011520183.1:p.Tyr887_Ser979delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3128,
          "referenceAllele": "C",
          "start": 3127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.2661C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Tyr887Ter",
        "hgvsWellDefined": "XP_011520183.1:p.Tyr887_Ser979delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042037",
      "coordinates": [
        {
          "allele": "A",
          "end": 4074,
          "referenceAllele": "C",
          "start": 4073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.3975C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Tyr1325Ter",
        "hgvsWellDefined": "NP_000048.1:p.Tyr1325_Ser1417delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3975C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3975C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Tyr1325Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Tyr1325Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738869",
      "coordinates": [
        {
          "allele": "A",
          "end": 4184,
          "referenceAllele": "C",
          "start": 4183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.3975C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Tyr1325Ter",
        "hgvsWellDefined": "NP_001274175.1:p.Tyr1325_Ser1417delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826740136",
      "coordinates": [
        {
          "allele": "A",
          "end": 3681,
          "referenceAllele": "C",
          "start": 3680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.3582C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Tyr1194Ter",
        "hgvsWellDefined": "NP_001274176.1:p.Tyr1194_Ser1286delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741856104",
      "coordinates": [
        {
          "allele": "A",
          "end": 4240,
          "referenceAllele": "C",
          "start": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.2850C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Tyr950Ter",
        "hgvsWellDefined": "NP_001274177.1:p.Tyr950_Ser1042delinsPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}