{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395130088",
  "communityStandardTitle": [
    "NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=812749[alleleid]",
        "alleleId": 812749,
        "preferredName": "NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/819760",
        "RCV": [
          "RCV001012602",
          "RCV001860714",
          "RCV001284026"
        ],
        "variationId": 819760
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23646214A>C?assembly=hg19",
        "id": "chr16:g.23646214A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23634893A>C?assembly=hg38",
        "id": "chr16:g.23634893A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203997",
        "rs": 118203997
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-23634893-A-C?dataset=gnomad_r4",
        "id": "16-23634893-A-C",
        "variant": "16:23634893 A / C"
      }
    ]
  },
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      "chromosome": "16",
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        {
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      ],
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        "NC_000016.10:g.23634893A>C",
        "CM000678.2:g.23634893A>C"
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "16",
      "coordinates": [
        {
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          "end": 23646214,
          "referenceAllele": "A",
          "start": 23646213
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      ],
      "hgvs": [
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        "CM000678.1:g.23646214A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 23553715,
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          "start": 23553714
        }
      ],
      "hgvs": [
        "NC_000016.8:g.23553715A>C"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11465,
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      ],
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        "NG_007406.1:g.11465T>G",
        "LRG_308:g.11465T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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        }
      ],
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      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.3:c.1659T>G"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 2957,
          "referenceAllele": "T",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.2:c.211+2957T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459882.2:n.211+2957T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS914301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1792,
          "referenceAllele": "T",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
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      "hgvs": [
        "ENST00000566069.6:c.1653T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459237.2:p.Tyr551Ter",
        "hgvsWellDefined": "ENSP00000459237.2:p.Tyr551_Arg1071delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetValProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2052,
          "referenceAllele": "T",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.2:c.1659T>G"
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      "proteinEffect": {
        "hgvs": "ENSP00000513286.2:p.Tyr553Ter",
        "hgvsWellDefined": "ENSP00000513286.2:p.Tyr553_Ser1134delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1958,
          "referenceAllele": "T",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.2:p.Tyr553Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.2:c.768T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.2:p.Tyr256Ter",
        "hgvsWellDefined": "ENSP00000460666.2:p.Tyr256_Ser891delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000513284.1:p.Tyr256Ter",
        "hgvsWellDefined": "ENSP00000513284.1:p.Tyr256_Ser891delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3000,
          "referenceAllele": "T",
          "start": 2999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697375.1:n.3000T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "referenceAllele": "T",
          "start": 1954
        }
      ],
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        "ENST00000697376.1:c.768T>G"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2052,
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          "start": 2051
        }
      ],
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      "geneNCBI_id": 79728,
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      "hgvs": [
        "ENST00000697377.1:c.768T>G"
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      "proteinEffect": {
        "hgvs": "ENSP00000513286.1:p.Tyr256Ter",
        "hgvsWellDefined": "ENSP00000513286.1:p.Tyr256_Ser837delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2173,
          "referenceAllele": "T",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697378.1:n.2173T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1958,
          "referenceAllele": "T",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
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      "hgvs": [
        "ENST00000697379.1:c.768T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.1:p.Tyr256Ter",
        "hgvsWellDefined": "ENSP00000513287.1:p.Tyr256_Ser891delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2681,
          "referenceAllele": "T",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513288.1:p.Tyr256Ter",
        "hgvsWellDefined": "ENSP00000513288.1:p.Tyr256_Ser749delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpGlyPheSerLeuLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212,
          "endIntronDirection": "-",
          "endIntronOffset": 5617,
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          "start": 212,
          "startIntronDirection": "-",
          "startIntronOffset": 5618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513289.1:n.49-5618T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS908753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS908754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Tyr551Ter",
        "hgvsWellDefined": "ENSP00000261584.4:p.Tyr551_Ser1186delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.1653T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.1653T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Tyr551Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Tyr551Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1806,
          "referenceAllele": "T",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.8:c.1653T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Tyr551Ter",
        "hgvsWellDefined": "ENSP00000261584.4:p.Tyr551_Ser1186delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "+",
          "endIntronOffset": 2957,
          "referenceAllele": "T",
          "start": 86,
          "startIntronDirection": "+",
          "startIntronOffset": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.1:c.86+2957T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1764,
          "referenceAllele": "T",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000568219.5:c.768T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454703.2:p.Tyr256Ter",
        "hgvsWellDefined": "ENSP00000454703.2:p.Tyr256_Ser891delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251719",
      "coordinates": [
        {
          "allele": "G",
          "end": 1853,
          "referenceAllele": "T",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.3:c.1653T>G",
        "LRG_308t1:c.1653T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Tyr551Ter",
        "hgvsWellDefined": "NP_078951.2:p.Tyr551_Ser1186delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2448,
          "referenceAllele": "T",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.1:c.1659T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Tyr553Ter",
        "hgvsWellDefined": "XP_011544248.1:p.Tyr553_Ser1188delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2449,
          "referenceAllele": "T",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.1:c.1659T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Tyr553Ter",
        "hgvsWellDefined": "XP_011544249.1:p.Tyr553_Arg1073delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetValProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1909,
          "referenceAllele": "T",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.1:c.768T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:p.Tyr256Ter",
        "hgvsWellDefined": "XP_011544250.1:p.Tyr256_Ser891delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2449,
          "referenceAllele": "T",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XR_950851.1:n.2449T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2658,
          "referenceAllele": "T",
          "start": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.2:c.1659T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Tyr553Ter",
        "hgvsWellDefined": "XP_011544248.1:p.Tyr553_Ser1188delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2623,
          "referenceAllele": "T",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.2:c.1659T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Tyr553Ter",
        "hgvsWellDefined": "XP_011544249.1:p.Tyr553_Arg1073delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetValProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1945,
          "referenceAllele": "T",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.2:c.768T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:p.Tyr256Ter",
        "hgvsWellDefined": "XP_011544250.1:p.Tyr256_Ser891delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2623,
          "referenceAllele": "T",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023671.1:c.1659T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879160.1:p.Tyr553Ter",
        "hgvsWellDefined": "XP_016879160.1:p.Tyr553_Ser1109delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1833,
          "referenceAllele": "T",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023672.2:c.1653T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879161.1:p.Tyr551Ter",
        "hgvsWellDefined": "XP_016879161.1:p.Tyr551_Ser1107delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1833,
          "referenceAllele": "T",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023673.2:c.1653T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879162.1:p.Tyr551Ter",
        "hgvsWellDefined": "XP_016879162.1:p.Tyr551_Arg1071delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetValProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251719",
      "coordinates": [
        {
          "allele": "G",
          "end": 1806,
          "referenceAllele": "T",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.1653T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Tyr551Ter",
        "hgvsWellDefined": "NP_078951.2:p.Tyr551_Ser1186delinsGlnHisGluLysLeuPheIleGlnValLysGlyLysLysSerArgHisGlnLysGluAspSerLeuSerTrpSerAsnSerAlaTyrLeuSerLeuAspAspAspAlaPheThrAlaProPheHisArgAspGlyMetLeuSerLeuLysGlnLeuLeuSerPheLeuSerIleThrAspPheGlnLeuProAspGluAspPheGlyProLeuLysLeuGluLysValLysSerCysSerGluLysProValGluProPheGluSerLysMetPheGlyGluArgHisLeuLysGluGlySerCysIlePheProGluGluLeuSerProLysArgMetAspThrGluMetGluAspLeuGluGluAspLeuIleValLeuProGlyLysSerHisProLysArgProAsnSerGlnSerGlnHisThrLysThrGlyLeuSerSerSerIleLeuLeuTyrThrProLeuAsnThrValAlaProAspAspAsnAspArgProThrThrAspMetCysSerProAlaPheProIleLeuGlyThrThrProAlaPheGlyProGlnGlySerTyrGluLysAlaSerThrGluValAlaGlyArgThrCysCysThrProGlnLeuAlaHisLeuLysAspSerValCysLeuAlaSerAspThrLysGlnPheAspSerSerGlySerProAlaLysProHisThrThrLeuGlnValSerGlyArgGlnGlyGlnProThrCysAspCysAspSerValProProGlyThrProProProIleGluSerPheThrPheLysGluAsnGlnLeuCysArgAsnThrCysGlnGluLeuHisLysHisSerValGluGlnThrGluThrAlaGluLeuProAlaSerAspSerIleAsnProGlyAsnLeuGlnLeuValSerGluLeuLysAsnProSerGlySerCysSerValAspValSerAlaMetPheTrpGluArgAlaGlyCysLysGluProCysIleIleThrAlaCysGluAspValValSerLeuTrpLysAlaLeuAspAlaTrpGlnTrpGluLysLeuTyrThrTrpHisPheAlaGluValProValLeuGlnIleValProValProAspValTyrAsnLeuValCysValAlaLeuGlyAsnLeuGluIleArgGluIleArgAlaLeuPheCysSerSerAspAspGluSerGluLysGlnValLeuLeuLysSerGlyAsnIleLysAlaValLeuGlyLeuThrLysArgArgLeuValSerSerSerGlyThrLeuSerAspGlnGlnValGluValMetThrPheAlaGluAspGlyGlyGlyLysGluAsnGlnPheLeuMetProProGluGluThrIleLeuThrPheAlaGluValGlnGlyMetGlnGluAlaLeuLeuGlyThrThrIleMetAsnAsnIleValIleTrpAsnLeuLysThrGlyGlnLeuLeuLysLysMetHisIleAspAspSerTyrGlnAlaSerValCysHisLysAlaTyrSerGluMetGlyLeuLeuPheIleValLeuSerHisProCysAlaLysGluSerGluSerLeuArgSerProValPheGlnLeuIleValIleAsnProLysThrThrLeuSerValGlyValMetLeuTyrCysLeuProProGlyGlnAlaGlyArgPheLeuGluGlyAspValLysAspHisCysAlaAlaAlaIleLeuThrSerGlyThrIleAlaIleTrpAspLeuLeuLeuGlyGlnCysThrAlaLeuLeuProProValSerAspGlnHisTrpSerPheValLysTrpSerGlyThrAspSerHisLeuLeuAlaGlyGlnLysAspGlyAsnIlePheValTyrHisTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.1653T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.1653T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Tyr551Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Tyr551Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}