{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7738519",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547927[alleleid]",
        "alleleId": 547927,
        "preferredName": "NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/555723",
        "RCV": [
          "RCV000671593",
          "RCV001010863",
          "RCV002508246"
        ],
        "variationId": 555723
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-91303904-C-G",
        "id": "15-91303904-C-G",
        "variant": "15:91303904 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91303904C>G?assembly=hg19",
        "id": "chr15:g.91303904C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90760674C>G?assembly=hg38",
        "id": "chr15:g.90760674C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754203833",
        "rs": 754203833
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90760674-C-G?dataset=gnomad_r3",
        "id": "15-90760674-C-G",
        "variant": "15:90760674 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90760674-C-G?dataset=gnomad_r4",
        "id": "15-90760674-C-G",
        "variant": "15:90760674 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 90760674,
          "referenceAllele": "C",
          "start": 90760673
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90760674C>G",
        "CM000677.2:g.90760674C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 91303904,
          "referenceAllele": "C",
          "start": 91303903
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91303904C>G",
        "CM000677.1:g.91303904C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89104908,
          "referenceAllele": "C",
          "start": 89104907
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89104908C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48303,
          "referenceAllele": "C",
          "start": 48302
        }
      ],
      "hgvs": [
        "NG_007272.1:g.48303C>G",
        "LRG_20:g.48303C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1400,
          "referenceAllele": "C",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Ser434Ter",
        "hgvsWellDefined": "ENSP00000347232.3:p.Ser434_Ser1417delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1301C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1301C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Ser434Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Ser434Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Ser434Ter",
        "hgvsWellDefined": "ENSP00000497646.1:p.Ser434_Lys1386delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyThrLysSerAspSerValAlaGlnAlaArgValGlnTrpHisAsnLeuGlySerLeuGlnProLeuProProValLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1377,
          "referenceAllele": "C",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Ser434Ter",
        "hgvsWellDefined": "ENSP00000506117.1:p.Ser434_Ser1417delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Ser434Ter",
        "hgvsWellDefined": "ENSP00000506682.1:p.Ser434_Ser1372delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyTrpSerPheProMetLeuProArgLeuValSerAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Ser434Ter",
        "hgvsWellDefined": "ENSP00000347232.3:p.Ser434_Ser1417delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558599.1:n.429C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1352,
          "referenceAllele": "C",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Ser434Ter",
        "hgvsWellDefined": "ENSP00000454158.1:p.Ser434_Ser1286delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826564",
      "coordinates": [
        {
          "allele": "G",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Ser434Ter",
        "hgvsWellDefined": "NP_000048.1:p.Ser434_Ser1417delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736980",
      "coordinates": [
        {
          "allele": "G",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Ser434Ter",
        "hgvsWellDefined": "NP_001274175.1:p.Ser434_Ser1417delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826739315",
      "coordinates": [
        {
          "allele": "G",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Ser434Ter",
        "hgvsWellDefined": "NP_001274176.1:p.Ser434_Ser1286delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016342",
      "coordinates": [
        {
          "allele": "G",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.176C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Ser59Ter",
        "hgvsWellDefined": "NP_001274177.1:p.Ser59_Ser1042delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.-14C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-14C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Ser434Ter",
        "hgvsWellDefined": "XP_011520184.1:p.Ser434_Gln907delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "C",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.-14C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-14C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1348,
          "referenceAllele": "C",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Ser434Ter",
        "hgvsWellDefined": "XP_011520184.1:p.Ser434_Gln907delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826564",
      "coordinates": [
        {
          "allele": "G",
          "end": 1400,
          "referenceAllele": "C",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Ser434Ter",
        "hgvsWellDefined": "NP_000048.1:p.Ser434_Ser1417delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1301C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1301C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Ser434Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Ser434Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736980",
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Ser434Ter",
        "hgvsWellDefined": "NP_001274175.1:p.Ser434_Ser1417delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826739315",
      "coordinates": [
        {
          "allele": "G",
          "end": 1400,
          "referenceAllele": "C",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.1301C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Ser434Ter",
        "hgvsWellDefined": "NP_001274176.1:p.Ser434_Ser1286delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016342",
      "coordinates": [
        {
          "allele": "G",
          "end": 1566,
          "referenceAllele": "C",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.176C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Ser59Ter",
        "hgvsWellDefined": "NP_001274177.1:p.Ser59_Ser1042delinsLeuAspGlyProMetGluGlyAspSerCysProThrGlyAsnSerMetLysGluLeuAsnPheSerHisLeuProSerAsnSerValSerProGlyAspCysLeuLeuThrThrThrLeuGlyLysThrGlyPheSerAlaThrArgLysAsnLeuPheGluArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}