{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042294",
  "communityStandardTitle": [
    "NM_002016.2(FLG):c.11528C>G (p.Ser3843Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359210[alleleid]",
        "alleleId": 359210,
        "preferredName": "NM_002016.2(FLG):c.11528C>G (p.Ser3843Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373097",
        "RCV": [
          "RCV000412869"
        ],
        "variationId": 373097
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.152275834G>C?assembly=hg19",
        "id": "chr1:g.152275834G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.152303358G>C?assembly=hg38",
        "id": "chr1:g.152303358G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518212",
        "rs": 1057518212
      }
    ]
  },
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    {
      "chromosome": "1",
      "coordinates": [
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          "end": 152303358,
          "referenceAllele": "G",
          "start": 152303357
        }
      ],
      "hgvs": [
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        "CM000663.2:g.152303358G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 152275834,
          "referenceAllele": "G",
          "start": 152275833
        }
      ],
      "hgvs": [
        "NC_000001.10:g.152275834G>C",
        "CM000663.1:g.152275834G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "referenceAllele": "G",
          "start": 150542457
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
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      ],
      "hgvs": [
        "NG_016190.1:g.26846C>G",
        "LRG_1028:g.26846C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002996"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11600,
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          "start": 11599
        }
      ],
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      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000357789.1:p.Ser3843_Glu4061delinsGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750285",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000368799.2:c.11528C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.11528C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Ser3843Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Ser3843Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "end": 11564,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000357789.1:p.Ser3843_Glu4061delinsGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397049",
      "coordinates": [
        {
          "allele": "G",
          "end": 11564,
          "referenceAllele": "C",
          "start": 11563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
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        "LRG_1028t1:c.11528C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Ser3843Ter",
        "hgvsWellDefined": "NP_002007.1:p.Ser3843_Glu4061delinsGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9674,
          "referenceAllele": "C",
          "start": 9673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "XM_011509329.1:c.9584C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507631.1:p.Ser3195Ter",
        "hgvsWellDefined": "XP_011507631.1:p.Ser3195_Glu3413delinsGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645397049",
      "coordinates": [
        {
          "allele": "G",
          "end": 11600,
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      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_002007.1:p.Ser3843_Glu4061delinsGlnSerGlyGlnGlyGluSerAlaGlySerArgArgSerArgArgGlnGlySerSerValSerGlnAspSerAspSerGluAlaTyrProGluAspSerGluArgArgSerGluSerAlaSerArgAsnHisHisGlySerSerArgGluGlnSerArgAspGlySerArgHisProGlySerSerHisArgAspThrAlaSerHisValGlnSerSerProValGlnSerAspSerSerThrAlaLysGluHisGlyHisPheSerSerLeuSerGlnAspSerAlaTyrHisSerGlyIleGlnSerArgGlySerProHisSerSerSerSerTyrHisTyrGlnSerGluGlyThrGluArgGlnLysGlyGlnSerGlyLeuValTrpArgHisGlySerTyrGlySerAlaAspTyrAspTyrGlyGluSerGlyPheArgHisSerGlnHisGlySerValSerTyrAsnSerAsnProValValPheLysGluArgSerAspIleCysLysAlaSerAlaPheGlyLysAspHisProArgTyrTyrAlaThrTyrIleAsnLysAspProGlyLeuCysGlyHisSerSerAspIleSerLysGlnLeuGlyPheSerGlnSerGlnArgTyrTyrTyrTyrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695431",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.11528C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.11528C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Ser3843Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Ser3843Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}