{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393843110",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.1462G>T (p.Glu488Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=573614[alleleid]",
        "alleleId": 573614,
        "preferredName": "NM_000057.4(BLM):c.1462G>T (p.Glu488Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/577769",
        "RCV": [
          "RCV000700601"
        ],
        "variationId": 577769
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91304065G>T?assembly=hg19",
        "id": "chr15:g.91304065G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90760835G>T?assembly=hg38",
        "id": "chr15:g.90760835G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1477193473",
        "rs": 1477193473
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 90760835,
          "referenceAllele": "G",
          "start": 90760834
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90760835G>T",
        "CM000677.2:g.90760835G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 91304065,
          "referenceAllele": "G",
          "start": 91304064
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91304065G>T",
        "CM000677.1:g.91304065G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89105069,
          "referenceAllele": "G",
          "start": 89105068
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89105069G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48464,
          "referenceAllele": "G",
          "start": 48463
        }
      ],
      "hgvs": [
        "NG_007272.1:g.48464G>T",
        "LRG_20:g.48464G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "G",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Glu488Ter",
        "hgvsWellDefined": "ENSP00000347232.3:p.Glu488_Ser1417delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1462G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1462G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Glu488Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Glu488Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1544,
          "referenceAllele": "G",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Glu488Ter",
        "hgvsWellDefined": "ENSP00000497646.1:p.Glu488_Lys1386delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyThrLysSerAspSerValAlaGlnAlaArgValGlnTrpHisAsnLeuGlySerLeuGlnProLeuProProValLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1538,
          "referenceAllele": "G",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Glu488Ter",
        "hgvsWellDefined": "ENSP00000506117.1:p.Glu488_Ser1417delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1544,
          "referenceAllele": "G",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Glu488Ter",
        "hgvsWellDefined": "ENSP00000506682.1:p.Glu488_Ser1372delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyTrpSerPheProMetLeuProArgLeuValSerAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1580,
          "referenceAllele": "G",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Glu488Ter",
        "hgvsWellDefined": "ENSP00000347232.3:p.Glu488_Ser1417delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1669,
          "referenceAllele": "G",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.*386G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:n.*386G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1513,
          "referenceAllele": "G",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Glu488Ter",
        "hgvsWellDefined": "ENSP00000454158.1:p.Glu488_Ser1286delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891845629",
      "coordinates": [
        {
          "allele": "T",
          "end": 1580,
          "referenceAllele": "G",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Glu488Ter",
        "hgvsWellDefined": "NP_000048.1:p.Glu488_Ser1417delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826737100",
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "G",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Glu488Ter",
        "hgvsWellDefined": "NP_001274175.1:p.Glu488_Ser1417delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015894",
      "coordinates": [
        {
          "allele": "T",
          "end": 1580,
          "referenceAllele": "G",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Glu488Ter",
        "hgvsWellDefined": "NP_001274176.1:p.Glu488_Ser1286delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826740490",
      "coordinates": [
        {
          "allele": "T",
          "end": 1746,
          "referenceAllele": "G",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Glu113Ter",
        "hgvsWellDefined": "NP_001274177.1:p.Glu113_Ser1042delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Glu50Ter",
        "hgvsWellDefined": "XP_011520183.1:p.Glu50_Ser979delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1568,
          "referenceAllele": "G",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Glu488Ter",
        "hgvsWellDefined": "XP_011520184.1:p.Glu488_Gln907delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Glu50Ter",
        "hgvsWellDefined": "XP_011520183.1:p.Glu50_Ser979delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1509,
          "referenceAllele": "G",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Glu488Ter",
        "hgvsWellDefined": "XP_011520184.1:p.Glu488_Gln907delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891845629",
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "G",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Glu488Ter",
        "hgvsWellDefined": "NP_000048.1:p.Glu488_Ser1417delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1462G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1462G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Glu488Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Glu488Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826737100",
      "coordinates": [
        {
          "allele": "T",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Glu488Ter",
        "hgvsWellDefined": "NP_001274175.1:p.Glu488_Ser1417delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015894",
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "G",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.1462G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Glu488Ter",
        "hgvsWellDefined": "NP_001274176.1:p.Glu488_Ser1286delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826740490",
      "coordinates": [
        {
          "allele": "T",
          "end": 1727,
          "referenceAllele": "G",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Glu113Ter",
        "hgvsWellDefined": "NP_001274177.1:p.Glu113_Ser1042delinsArgProLeuPheAsnThrHisLeuGlnLysSerPheValSerSerAsnTrpAlaGluThrProArgLeuGlyLysLysAsnGluSerSerTyrPheProGlyAsnValLeuThrSerThrAlaValLysAspGlnAsnLysHisThrAlaSerIleAsnAspLeuGluArgGluThrGlnProSerTyrAspIleAspAsnPheAspIleAspAspPheAspAspAspAspAspTrpGluAspIleMetHisAsnLeuAlaAlaSerLysSerSerThrAlaAlaTyrGlnProIleLysGluGlyArgProIleLysSerValSerGluArgLeuSerSerAlaLysThrAspCysLeuProValSerSerThrAlaGlnAsnIleAsnPheSerGluSerIleGlnAsnTyrThrAspLysSerAlaGlnAsnLeuAlaSerArgAsnLeuLysHisGluArgPheGlnSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}