{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA352721030",
  "communityStandardTitle": [
    "NM_002292.4(LAMB2):c.2494C>T (p.Gln832Ter)"
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        "preferredName": "NM_002292.4(LAMB2):c.2494C>T (p.Gln832Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2500786",
        "RCV": [
          "RCV003225698"
        ],
        "variationId": 2500786
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49162912G>A?assembly=hg19",
        "id": "chr3:g.49162912G>A"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49125479G>A?assembly=hg38",
        "id": "chr3:g.49125479G>A"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2472542236",
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      "referenceGenome": "GRCh38",
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    },
    {
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      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "3",
      "coordinates": [
        {
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          "end": 49137916,
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS000839"
    },
    {
      "coordinates": [
        {
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          "start": 459
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      ],
      "hgvs": [
        "NG_054716.1:g.460C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS617487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 2677,
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        }
      ],
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      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000307156.4:p.Gln832_Gln1798delinsCysSerHisGluGlyAlaLeuSerSerLeuCysGluLysThrSerGlyGlnCysLeuCysArgThrGlyAlaPheGlyLeuArgCysAspArgCysGlnArgGlyGlnTrpGlyPheProSerCysArgProCysValCysAsnGlyHisAlaAspGluCysAsnThrHisThrGlyAlaCysLeuGlyCysArgAspHisThrGlyGlyGluHisCysGluArgCysIleAlaGlyPheHisGlyAspProArgLeuProTyrGlyGlyGlnCysArgProCysProCysProGluGlyProGlySerGlnArgHisPheAlaThrSerCysHisGlnAspGluTyrSerGlnGlnIleValCysHisCysArgAlaGlyTyrThrGlyLeuArgCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS745205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.2494C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.2494C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:p.Gln832Ter"
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          "RefSeq": {
            "hgvs": "NP_002283.3:p.Gln832Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 2646
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2659,
          "referenceAllele": "C",
          "start": 2658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000388325.1:p.Gln832_Gln1798delinsCysSerHisGluGlyAlaLeuSerSerLeuCysGluLysThrSerGlyGlnCysLeuCysArgThrGlyAlaPheGlyLeuArgCysAspArgCysGlnArgGlyGlnTrpGlyPheProSerCysArgProCysValCysAsnGlyHisAlaAspGluCysAsnThrHisThrGlyAlaCysLeuGlyCysArgAspHisThrGlyGlyGluHisCysGluArgCysIleAlaGlyPheHisGlyAspProArgLeuProTyrGlyGlyGlnCysArgProCysProCysProGluGlyProGlySerGlnArgHisPheAlaThrSerCysHisGlnAspGluTyrSerGlnGlnIleValCysHisCysArgAlaGlyTyrThrGlyLeuArgCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS285241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS308614"
    },
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      "coordinates": [
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          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN006487",
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      "referenceSequence": "http://reg.genome.network/refseq/RS318460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
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        }
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      "gene": "http://reg.genome.network/gene/GN006487",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS322617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "endIntronDirection": "-",
          "endIntronOffset": 309,
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        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS325133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580276635",
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        {
          "allele": "T",
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      "proteinEffect": {
        "hgvs": "NP_002283.3:p.Gln832Ter",
        "hgvsWellDefined": "NP_002283.3:p.Gln832_Gln1798delinsCysSerHisGluGlyAlaLeuSerSerLeuCysGluLysThrSerGlyGlnCysLeuCysArgThrGlyAlaPheGlyLeuArgCysAspArgCysGlnArgGlyGlnTrpGlyPheProSerCysArgProCysValCysAsnGlyHisAlaAspGluCysAsnThrHisThrGlyAlaCysLeuGlyCysArgAspHisThrGlyGlyGluHisCysGluArgCysIleAlaGlyPheHisGlyAspProArgLeuProTyrGlyGlyGlnCysArgProCysProCysProGluGlyProGlySerGlnArgHisPheAlaThrSerCysHisGlnAspGluTyrSerGlnGlnIleValCysHisCysArgAlaGlyTyrThrGlyLeuArgCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2592,
          "referenceAllele": "C",
          "start": 2591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.3:c.2494C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:p.Gln832Ter",
        "hgvsWellDefined": "XP_005265184.1:p.Gln832_Gln1798delinsCysSerHisGluGlyAlaLeuSerSerLeuCysGluLysThrSerGlyGlnCysLeuCysArgThrGlyAlaPheGlyLeuArgCysAspArgCysGlnArgGlyGlnTrpGlyPheProSerCysArgProCysValCysAsnGlyHisAlaAspGluCysAsnThrHisThrGlyAlaCysLeuGlyCysArgAspHisThrGlyGlyGluHisCysGluArgCysIleAlaGlyPheHisGlyAspProArgLeuProTyrGlyGlyGlnCysArgProCysProCysProGluGlyProGlySerGlnArgHisPheAlaThrSerCysHisGlnAspGluTyrSerGlnGlnIleValCysHisCysArgAlaGlyTyrThrGlyLeuArgCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2607,
          "referenceAllele": "C",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.4:c.2494C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:p.Gln832Ter",
        "hgvsWellDefined": "XP_005265184.1:p.Gln832_Gln1798delinsCysSerHisGluGlyAlaLeuSerSerLeuCysGluLysThrSerGlyGlnCysLeuCysArgThrGlyAlaPheGlyLeuArgCysAspArgCysGlnArgGlyGlnTrpGlyPheProSerCysArgProCysValCysAsnGlyHisAlaAspGluCysAsnThrHisThrGlyAlaCysLeuGlyCysArgAspHisThrGlyGlyGluHisCysGluArgCysIleAlaGlyPheHisGlyAspProArgLeuProTyrGlyGlyGlnCysArgProCysProCysProGluGlyProGlySerGlnArgHisPheAlaThrSerCysHisGlnAspGluTyrSerGlnGlnIleValCysHisCysArgAlaGlyTyrThrGlyLeuArgCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580276635",
      "coordinates": [
        {
          "allele": "T",
          "end": 2677,
          "referenceAllele": "C",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NM_002292.4:c.2494C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002283.3:p.Gln832Ter",
        "hgvsWellDefined": "NP_002283.3:p.Gln832_Gln1798delinsCysSerHisGluGlyAlaLeuSerSerLeuCysGluLysThrSerGlyGlnCysLeuCysArgThrGlyAlaPheGlyLeuArgCysAspArgCysGlnArgGlyGlnTrpGlyPheProSerCysArgProCysValCysAsnGlyHisAlaAspGluCysAsnThrHisThrGlyAlaCysLeuGlyCysArgAspHisThrGlyGlyGluHisCysGluArgCysIleAlaGlyPheHisGlyAspProArgLeuProTyrGlyGlyGlnCysArgProCysProCysProGluGlyProGlySerGlnArgHisPheAlaThrSerCysHisGlnAspGluTyrSerGlnGlnIleValCysHisCysArgAlaGlyTyrThrGlyLeuArgCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.2494C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.2494C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:p.Gln832Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002283.3:p.Gln832Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}