{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342754334",
  "communityStandardTitle": [
    "NM_000298.6(PKLR):c.808C>T (p.Arg270Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4170546",
        "active": true,
        "id": "COSM4170546"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1701472[alleleid]",
        "alleleId": 1701472,
        "preferredName": "NM_000298.6(PKLR):c.808C>T (p.Arg270Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1705384",
        "RCV": [
          "RCV002283698",
          "RCV003138152"
        ],
        "variationId": 1705384
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155264430G>A?assembly=hg19",
        "id": "chr1:g.155264430G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155294639G>A?assembly=hg38",
        "id": "chr1:g.155294639G>A"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/772860949",
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    "gnomAD_2": [
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        "variant": "1:155264430 G / A"
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    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155294639-G-A?dataset=gnomad_r4",
        "id": "1-155294639-G-A",
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      }
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "1",
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
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      "referenceGenome": "NCBI36",
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261622"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275080"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS006359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830405306",
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      "referenceSequence": "http://reg.genome.network/refseq/RS043912"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS057155"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069106"
    },
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      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510777",
      "MANE": {
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        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000342741.6:c.808C>T"
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          "RefSeq": {
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        },
        "protein": {
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          "RefSeq": {
            "hgvs": "NP_000289.1:p.Arg270Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "hgvs": [
        "XM_006711386.4:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711449.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006711449.1:p.Arg206_Ser510delinsAspLeuArgPheGlyValGluHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 793,
          "referenceAllele": "C",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_011509640.3:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507942.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_011507942.1:p.Arg206_Ser510delinsAspLeuArgPheGlyValGluHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_017001493.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856982.1:p.Arg270Ter",
        "hgvsWellDefined": "XP_016856982.1:p.Arg270_Ala383delinsAspLeuArgPheGlyValGluHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnValTrpSerGluAlaLeuArgCysTrpArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830405306",
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "C",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_181871.4:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_870986.1:p.Arg239Ter",
        "hgvsWellDefined": "NP_870986.1:p.Arg239_Ser543delinsAspLeuArgPheGlyValGluHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701034"
    }
  ],
  "type": "nucleotide"
}