{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341922",
  "communityStandardTitle": [
    "NM_002863.5(PYGL):c.280C>T (p.Arg94Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34189[alleleid]",
        "alleleId": 34189,
        "preferredName": "NM_002863.5(PYGL):c.280C>T (p.Arg94Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21337",
        "RCV": [
          "RCV000020502"
        ],
        "variationId": 21337
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-51404519-G-A",
        "id": "14-51404519-G-A",
        "variant": "14:51404519 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.51404519G>A?assembly=hg19",
        "id": "chr14:g.51404519G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.50937801G>A?assembly=hg38",
        "id": "chr14:g.50937801G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113993973",
        "rs": 113993973
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-51404519-G-A?dataset=gnomad_r2_1",
        "id": "14-51404519-G-A",
        "variant": "14:51404519 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-50937801-G-A?dataset=gnomad_r3",
        "id": "14-50937801-G-A",
        "variant": "14:50937801 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-50937801-G-A?dataset=gnomad_r4",
        "id": "14-50937801-G-A",
        "variant": "14:50937801 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 50937801,
          "referenceAllele": "G",
          "start": 50937800
        }
      ],
      "hgvs": [
        "NC_000014.9:g.50937801G>A",
        "CM000676.2:g.50937801G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 51404519,
          "referenceAllele": "G",
          "start": 51404518
        }
      ],
      "hgvs": [
        "NC_000014.8:g.51404519G>A",
        "CM000676.1:g.51404519G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 50474269,
          "referenceAllele": "G",
          "start": 50474268
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      ],
      "hgvs": [
        "NC_000014.7:g.50474269G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11730,
          "referenceAllele": "C",
          "start": 11729
        }
      ],
      "hgvs": [
        "NG_012796.1:g.11730C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002535"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000216392.8:c.280C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000216392.7:p.Arg94_Asn847delinsThrLeuGlnAsnThrMetIleAsnLeuGlyLeuGlnAsnAlaCysAspGluAlaIleTyrGlnLeuGlyLeuAspIleGluGluLeuGluGluIleGluGluAspAlaGlyLeuGlyAsnGlyGlyLeuGlyArgLeuAlaAlaCysPheLeuAspSerMetAlaThrLeuGlyLeuAlaAlaTyrGlyTyrGlyIleArgTyrGluTyrGlyIlePheAsnGlnLysIleArgAspGlyTrpGlnValGluGluAlaAspAspTrpLeuArgTyrGlyAsnProTrpGluLysSerArgProGluPheMetLeuProValHisPheTyrGlyLysValGluHisThrAsnThrGlyThrLysTrpIleAspThrGlnValValLeuAlaLeuProTyrAspThrProValProGlyTyrMetAsnAsnThrValAsnThrMetArgLeuTrpSerAlaArgAlaProAsnAspPheAsnLeuArgAspPheAsnValGlyAspTyrIleGlnAlaValLeuAspArgAsnLeuAlaGluAsnIleSerArgValLeuTyrProAsnAspAsnPhePheGluGlyLysGluLeuArgLeuLysGlnGluTyrPheValValAlaAlaThrLeuGlnAspIleIleArgArgPheLysAlaSerLysPheGlySerThrArgGlyAlaGlyThrValPheAspAlaPheProAspGlnValAlaIleGlnLeuAsnAspThrHisProAlaLeuAlaIleProGluLeuMetArgIlePheValAspIleGluLysLeuProTrpSerLysAlaTrpGluLeuThrGlnLysThrPheAlaTyrThrAsnHisThrValLeuProGluAlaLeuGluArgTrpProValAspLeuValGluLysLeuLeuProArgHisLeuGluIleIleTyrGluIleAsnGlnLysHisLeuAspArgIleValAlaLeuPheProLysAspValAspArgLeuArgArgMetSerLeuIleGluGluGluGlySerLysArgIleAsnMetAlaHisLeuCysIleValGlySerHisAlaValAsnGlyValAlaLysIleHisSerAspIleValLysThrLysValPheLysAspPheSerGluLeuGluProAspLysPheGlnAsnLysThrAsnGlyIleThrProArgArgTrpLeuLeuLeuCysAsnProGlyLeuAlaGluLeuIleAlaGluLysIleGlyGluAspTyrValLysAspLeuSerGlnLeuThrLysLeuHisSerPheLeuGlyAspAspValPheLeuArgGluLeuAlaLysValLysGlnGluAsnLysLeuLysPheSerGlnPheLeuGluThrGluTyrLysValLysIleAsnProSerSerMetPheAspValGlnValLysArgIleHisGluTyrLysArgGlnLeuLeuAsnCysLeuHisValIleThrMetTyrAsnArgIleLysLysAspProLysLysLeuPheValProArgThrValIleIleGlyGlyLysAlaAlaProGlyTyrHisMetAlaLysMetIleIleLysLeuIleThrSerValAlaAspValValAsnAsnAspProMetValGlySerLysLeuLysValIlePheLeuGluAsnTyrArgValSerLeuAlaGluLysValIleProAlaThrAspLeuSerGluGlnIleSerThrAlaGlyThrGluAlaSerGlyThrGlyAsnMetLysPheMetLeuAsnGlyAlaLeuThrIleGlyThrMetAspGlyAlaAsnValGluMetAlaGluGluAlaGlyGluGluAsnLeuPheIlePheGlyMetArgIleAspAspValAlaAlaLeuAspLysLysGlyTyrGluAlaLysGluTyrTyrGluAlaLeuProGluLeuLysLeuValIleAspGlnIleAspAsnGlyPhePheSerProLysGlnProAspLeuPheLysAspIleIleAsnMetLeuPheTyrHisAspArgPheLysValPheAlaAspTyrGluAlaTyrValLysCysGlnAspLysValSerGlnLeuTyrMetAsnProLysAlaTrpAsnThrMetValLeuLysAsnIleAlaAlaSerGlyLysPheSerSerAspArgThrIleLysGluTyrAlaGlnAsnIleTrpAsnValGluProSerAspLeuLysIleSerLeuSerAsnGluSerAsnLysValAsnGlyAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740307",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216392.8:c.280C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002863.5:c.280C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216392.7:p.Arg94Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002854.3:p.Arg94Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "C",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000216392.7:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216392.7:p.Arg94Ter",
        "hgvsWellDefined": "ENSP00000216392.7:p.Arg94_Asn847delinsThrLeuGlnAsnThrMetIleAsnLeuGlyLeuGlnAsnAlaCysAspGluAlaIleTyrGlnLeuGlyLeuAspIleGluGluLeuGluGluIleGluGluAspAlaGlyLeuGlyAsnGlyGlyLeuGlyArgLeuAlaAlaCysPheLeuAspSerMetAlaThrLeuGlyLeuAlaAlaTyrGlyTyrGlyIleArgTyrGluTyrGlyIlePheAsnGlnLysIleArgAspGlyTrpGlnValGluGluAlaAspAspTrpLeuArgTyrGlyAsnProTrpGluLysSerArgProGluPheMetLeuProValHisPheTyrGlyLysValGluHisThrAsnThrGlyThrLysTrpIleAspThrGlnValValLeuAlaLeuProTyrAspThrProValProGlyTyrMetAsnAsnThrValAsnThrMetArgLeuTrpSerAlaArgAlaProAsnAspPheAsnLeuArgAspPheAsnValGlyAspTyrIleGlnAlaValLeuAspArgAsnLeuAlaGluAsnIleSerArgValLeuTyrProAsnAspAsnPhePheGluGlyLysGluLeuArgLeuLysGlnGluTyrPheValValAlaAlaThrLeuGlnAspIleIleArgArgPheLysAlaSerLysPheGlySerThrArgGlyAlaGlyThrValPheAspAlaPheProAspGlnValAlaIleGlnLeuAsnAspThrHisProAlaLeuAlaIleProGluLeuMetArgIlePheValAspIleGluLysLeuProTrpSerLysAlaTrpGluLeuThrGlnLysThrPheAlaTyrThrAsnHisThrValLeuProGluAlaLeuGluArgTrpProValAspLeuValGluLysLeuLeuProArgHisLeuGluIleIleTyrGluIleAsnGlnLysHisLeuAspArgIleValAlaLeuPheProLysAspValAspArgLeuArgArgMetSerLeuIleGluGluGluGlySerLysArgIleAsnMetAlaHisLeuCysIleValGlySerHisAlaValAsnGlyValAlaLysIleHisSerAspIleValLysThrLysValPheLysAspPheSerGluLeuGluProAspLysPheGlnAsnLysThrAsnGlyIleThrProArgArgTrpLeuLeuLeuCysAsnProGlyLeuAlaGluLeuIleAlaGluLysIleGlyGluAspTyrValLysAspLeuSerGlnLeuThrLysLeuHisSerPheLeuGlyAspAspValPheLeuArgGluLeuAlaLysValLysGlnGluAsnLysLeuLysPheSerGlnPheLeuGluThrGluTyrLysValLysIleAsnProSerSerMetPheAspValGlnValLysArgIleHisGluTyrLysArgGlnLeuLeuAsnCysLeuHisValIleThrMetTyrAsnArgIleLysLysAspProLysLysLeuPheValProArgThrValIleIleGlyGlyLysAlaAlaProGlyTyrHisMetAlaLysMetIleIleLysLeuIleThrSerValAlaAspValValAsnAsnAspProMetValGlySerLysLeuLysValIlePheLeuGluAsnTyrArgValSerLeuAlaGluLysValIleProAlaThrAspLeuSerGluGlnIleSerThrAlaGlyThrGluAlaSerGlyThrGlyAsnMetLysPheMetLeuAsnGlyAlaLeuThrIleGlyThrMetAspGlyAlaAsnValGluMetAlaGluGluAlaGlyGluGluAsnLeuPheIlePheGlyMetArgIleAspAspValAlaAlaLeuAspLysLysGlyTyrGluAlaLysGluTyrTyrGluAlaLeuProGluLeuLysLeuValIleAspGlnIleAspAsnGlyPhePheSerProLysGlnProAspLeuPheLysAspIleIleAsnMetLeuPheTyrHisAspArgPheLysValPheAlaAspTyrGluAlaTyrValLysCysGlnAspLysValSerGlnLeuTyrMetAsnProLysAlaTrpAsnThrMetValLeuLysAsnIleAlaAlaSerGlyLysPheSerSerAspArgThrIleLysGluTyrAlaGlnAsnIleTrpAsnValGluProSerAspLeuLysIleSerLeuSerAsnGluSerAsnLysValAsnGlyAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
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      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000530336.2:n.347C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000532462.5:c.280C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000431657.1:p.Arg94_Arg819delinsThrLeuGlnAsnThrMetIleAsnLeuGlyLeuGlnAsnAlaCysAspGluAlaIleTyrGlnLeuGlyLeuAspIleGluGluLeuGluGluIleGluGluAspAlaGlyLeuGlyAsnGlyGlyLeuGlyArgLeuAlaAlaCysPheLeuAspSerMetAlaThrLeuGlyLeuAlaAlaTyrGlyTyrGlyIleArgTyrGluTyrGlyIlePheAsnGlnLysIleArgAspGlyTrpGlnValGluGluAlaAspAspTrpLeuArgTyrGlyAsnProTrpGluLysSerArgProGluPheMetLeuProValHisPheTyrGlyLysValGluHisThrAsnThrGlyThrLysTrpIleAspThrGlnValValLeuAlaLeuProTyrAspThrProValProGlyTyrMetAsnAsnThrValAsnThrMetArgLeuTrpSerAlaArgAlaProAsnAspPheAsnLeuArgAspPheAsnValGlyAspTyrIleGlnAlaValLeuAspArgAsnLeuAlaGluAsnIleSerArgValLeuTyrProAsnAspAsnPhePheGluGlyLysGluLeuArgLeuLysGlnGluTyrPheValValAlaAlaThrLeuGlnAspIleIleArgArgPheLysAlaSerLysPheGlySerThrArgGlyAlaGlyThrValPheAspAlaPheProAspGlnValAlaIleGlnLeuAsnAspThrHisProAlaLeuAlaIleProGluLeuMetArgIlePheValAspIleGluLysLeuProTrpSerLysAlaTrpGluLeuThrGlnLysThrPheAlaTyrThrAsnHisThrValLeuProGluAlaLeuGluArgTrpProValAspLeuValGluLysLeuLeuProArgHisLeuGluIleIleTyrGluIleAsnGlnLysHisLeuAspArgIleValAlaLeuPheProLysAspValAspArgLeuArgArgMetSerLeuIleGluGluGluGlySerLysArgIleAsnMetAlaHisLeuCysIleValGlySerHisAlaValAsnGlyValAlaLysIleHisSerAspIleValLysThrLysValPheLysAspPheSerGluLeuGluProAspLysPheGlnAsnLysThrAsnGlyIleThrProArgArgTrpLeuLeuLeuCysAsnProGlyLeuAlaGluLeuIleAlaGluLysIleGlyGluAspTyrValLysAspLeuSerGlnLeuThrLysLeuHisSerPheLeuGlyAspAspValPheLeuArgGluLeuAlaLysValLysGlnGluAsnLysLeuLysPheSerGlnPheLeuGluThrGluTyrLysValLysIleAsnProSerSerMetPheAspValGlnValLysArgIleHisGluTyrLysArgGlnLeuLeuAsnCysLeuHisValIleThrMetTyrAsnArgIleLysLysAspProLysLysLeuPheValProArgThrValIleIleGlyGlyLysAlaAlaProGlyTyrHisMetAlaLysMetIleIleLysLeuIleThrSerValAlaAspValValAsnAsnAspProMetValGlySerLysLeuLysValIlePheLeuGluAsnTyrArgValSerLeuAlaGluLysValIleProAlaThrAspLeuSerGluGlnIleSerThrAlaGlyThrGluAlaSerGlyThrGlyAsnMetLysPheMetLeuAsnGlyAlaLeuThrIleGlyThrMetAspGlyAlaAsnValGluMetAlaGluGluAlaGlyGluGluAsnLeuPheIlePheGlyMetArgIleAspAspValAlaAlaLeuAspLysLysGlyTyrGluAlaLysGluTyrTyrGluAlaLeuProGluLeuLysLeuValIleAspGlnIleAspAsnGlyPhePheSerProLysGlnProAspLeuPheLysAspIleIleAsnMetLeuPheTyrHisAspArgPheLysValPheAlaAspTyrGluAlaTyrValLysCysGlnAspLysValSerGlnLeuTyrMetLysSerAspAlaValArgProLysHisTrpProGlyLysAspSerValGlnThrGlyProLeuArgGluThrValArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "endIntronDirection": "-",
          "endIntronOffset": 2615,
          "referenceAllele": "C",
          "start": 323,
          "startIntronDirection": "-",
          "startIntronOffset": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000544180.6:c.244-2616C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443787.1:n.244-2616C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "endIntronDirection": "-",
          "endIntronOffset": 2615,
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          "startIntronDirection": "-",
          "startIntronOffset": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_001163940.1:c.244-2616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157412.1:n.244-2616C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341923",
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_002863.4:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002854.3:p.Arg94Ter",
        "hgvsWellDefined": "NP_002854.3:p.Arg94_Asn847delinsThrLeuGlnAsnThrMetIleAsnLeuGlyLeuGlnAsnAlaCysAspGluAlaIleTyrGlnLeuGlyLeuAspIleGluGluLeuGluGluIleGluGluAspAlaGlyLeuGlyAsnGlyGlyLeuGlyArgLeuAlaAlaCysPheLeuAspSerMetAlaThrLeuGlyLeuAlaAlaTyrGlyTyrGlyIleArgTyrGluTyrGlyIlePheAsnGlnLysIleArgAspGlyTrpGlnValGluGluAlaAspAspTrpLeuArgTyrGlyAsnProTrpGluLysSerArgProGluPheMetLeuProValHisPheTyrGlyLysValGluHisThrAsnThrGlyThrLysTrpIleAspThrGlnValValLeuAlaLeuProTyrAspThrProValProGlyTyrMetAsnAsnThrValAsnThrMetArgLeuTrpSerAlaArgAlaProAsnAspPheAsnLeuArgAspPheAsnValGlyAspTyrIleGlnAlaValLeuAspArgAsnLeuAlaGluAsnIleSerArgValLeuTyrProAsnAspAsnPhePheGluGlyLysGluLeuArgLeuLysGlnGluTyrPheValValAlaAlaThrLeuGlnAspIleIleArgArgPheLysAlaSerLysPheGlySerThrArgGlyAlaGlyThrValPheAspAlaPheProAspGlnValAlaIleGlnLeuAsnAspThrHisProAlaLeuAlaIleProGluLeuMetArgIlePheValAspIleGluLysLeuProTrpSerLysAlaTrpGluLeuThrGlnLysThrPheAlaTyrThrAsnHisThrValLeuProGluAlaLeuGluArgTrpProValAspLeuValGluLysLeuLeuProArgHisLeuGluIleIleTyrGluIleAsnGlnLysHisLeuAspArgIleValAlaLeuPheProLysAspValAspArgLeuArgArgMetSerLeuIleGluGluGluGlySerLysArgIleAsnMetAlaHisLeuCysIleValGlySerHisAlaValAsnGlyValAlaLysIleHisSerAspIleValLysThrLysValPheLysAspPheSerGluLeuGluProAspLysPheGlnAsnLysThrAsnGlyIleThrProArgArgTrpLeuLeuLeuCysAsnProGlyLeuAlaGluLeuIleAlaGluLysIleGlyGluAspTyrValLysAspLeuSerGlnLeuThrLysLeuHisSerPheLeuGlyAspAspValPheLeuArgGluLeuAlaLysValLysGlnGluAsnLysLeuLysPheSerGlnPheLeuGluThrGluTyrLysValLysIleAsnProSerSerMetPheAspValGlnValLysArgIleHisGluTyrLysArgGlnLeuLeuAsnCysLeuHisValIleThrMetTyrAsnArgIleLysLysAspProLysLysLeuPheValProArgThrValIleIleGlyGlyLysAlaAlaProGlyTyrHisMetAlaLysMetIleIleLysLeuIleThrSerValAlaAspValValAsnAsnAspProMetValGlySerLysLeuLysValIlePheLeuGluAsnTyrArgValSerLeuAlaGluLysValIleProAlaThrAspLeuSerGluGlnIleSerThrAlaGlyThrGluAlaSerGlyThrGlyAsnMetLysPheMetLeuAsnGlyAlaLeuThrIleGlyThrMetAspGlyAlaAsnValGluMetAlaGluGluAlaGlyGluGluAsnLeuPheIlePheGlyMetArgIleAspAspValAlaAlaLeuAspLysLysGlyTyrGluAlaLysGluTyrTyrGluAlaLeuProGluLeuLysLeuValIleAspGlnIleAspAsnGlyPhePheSerProLysGlnProAspLeuPheLysAspIleIleAsnMetLeuPheTyrHisAspArgPheLysValPheAlaAspTyrGluAlaTyrValLysCysGlnAspLysValSerGlnLeuTyrMetAsnProLysAlaTrpAsnThrMetValLeuLysAsnIleAlaAlaSerGlyLysPheSerSerAspArgThrIleLysGluTyrAlaGlnAsnIleTrpAsnValGluProSerAspLeuLysIleSerLeuSerAsnGluSerAsnLysValAsnGlyAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341923",
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_002863.5:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002854.3:p.Arg94Ter",
        "hgvsWellDefined": "NP_002854.3:p.Arg94_Asn847delinsThrLeuGlnAsnThrMetIleAsnLeuGlyLeuGlnAsnAlaCysAspGluAlaIleTyrGlnLeuGlyLeuAspIleGluGluLeuGluGluIleGluGluAspAlaGlyLeuGlyAsnGlyGlyLeuGlyArgLeuAlaAlaCysPheLeuAspSerMetAlaThrLeuGlyLeuAlaAlaTyrGlyTyrGlyIleArgTyrGluTyrGlyIlePheAsnGlnLysIleArgAspGlyTrpGlnValGluGluAlaAspAspTrpLeuArgTyrGlyAsnProTrpGluLysSerArgProGluPheMetLeuProValHisPheTyrGlyLysValGluHisThrAsnThrGlyThrLysTrpIleAspThrGlnValValLeuAlaLeuProTyrAspThrProValProGlyTyrMetAsnAsnThrValAsnThrMetArgLeuTrpSerAlaArgAlaProAsnAspPheAsnLeuArgAspPheAsnValGlyAspTyrIleGlnAlaValLeuAspArgAsnLeuAlaGluAsnIleSerArgValLeuTyrProAsnAspAsnPhePheGluGlyLysGluLeuArgLeuLysGlnGluTyrPheValValAlaAlaThrLeuGlnAspIleIleArgArgPheLysAlaSerLysPheGlySerThrArgGlyAlaGlyThrValPheAspAlaPheProAspGlnValAlaIleGlnLeuAsnAspThrHisProAlaLeuAlaIleProGluLeuMetArgIlePheValAspIleGluLysLeuProTrpSerLysAlaTrpGluLeuThrGlnLysThrPheAlaTyrThrAsnHisThrValLeuProGluAlaLeuGluArgTrpProValAspLeuValGluLysLeuLeuProArgHisLeuGluIleIleTyrGluIleAsnGlnLysHisLeuAspArgIleValAlaLeuPheProLysAspValAspArgLeuArgArgMetSerLeuIleGluGluGluGlySerLysArgIleAsnMetAlaHisLeuCysIleValGlySerHisAlaValAsnGlyValAlaLysIleHisSerAspIleValLysThrLysValPheLysAspPheSerGluLeuGluProAspLysPheGlnAsnLysThrAsnGlyIleThrProArgArgTrpLeuLeuLeuCysAsnProGlyLeuAlaGluLeuIleAlaGluLysIleGlyGluAspTyrValLysAspLeuSerGlnLeuThrLysLeuHisSerPheLeuGlyAspAspValPheLeuArgGluLeuAlaLysValLysGlnGluAsnLysLeuLysPheSerGlnPheLeuGluThrGluTyrLysValLysIleAsnProSerSerMetPheAspValGlnValLysArgIleHisGluTyrLysArgGlnLeuLeuAsnCysLeuHisValIleThrMetTyrAsnArgIleLysLysAspProLysLysLeuPheValProArgThrValIleIleGlyGlyLysAlaAlaProGlyTyrHisMetAlaLysMetIleIleLysLeuIleThrSerValAlaAspValValAsnAsnAspProMetValGlySerLysLeuLysValIlePheLeuGluAsnTyrArgValSerLeuAlaGluLysValIleProAlaThrAspLeuSerGluGlnIleSerThrAlaGlyThrGluAlaSerGlyThrGlyAsnMetLysPheMetLeuAsnGlyAlaLeuThrIleGlyThrMetAspGlyAlaAsnValGluMetAlaGluGluAlaGlyGluGluAsnLeuPheIlePheGlyMetArgIleAspAspValAlaAlaLeuAspLysLysGlyTyrGluAlaLysGluTyrTyrGluAlaLeuProGluLeuLysLeuValIleAspGlnIleAspAsnGlyPhePheSerProLysGlnProAspLeuPheLysAspIleIleAsnMetLeuPheTyrHisAspArgPheLysValPheAlaAspTyrGluAlaTyrValLysCysGlnAspLysValSerGlnLeuTyrMetAsnProLysAlaTrpAsnThrMetValLeuLysAsnIleAlaAlaSerGlyLysPheSerSerAspArgThrIleLysGluTyrAlaGlnAsnIleTrpAsnValGluProSerAspLeuLysIleSerLeuSerAsnGluSerAsnLysValAsnGlyAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665758",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216392.8:c.280C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002863.5:c.280C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216392.7:p.Arg94Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002854.3:p.Arg94Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "endIntronDirection": "-",
          "endIntronOffset": 2615,
          "referenceAllele": "C",
          "start": 323,
          "startIntronDirection": "-",
          "startIntronOffset": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_001163940.2:c.244-2616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157412.1:n.244-2616C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678276"
    }
  ],
  "type": "nucleotide"
}