{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386296446",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.2748C>G (p.Tyr916Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2157655[alleleid]",
        "alleleId": 2157655,
        "preferredName": "NM_024312.5(GNPTAB):c.2748C>G (p.Tyr916Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2098459",
        "RCV": [
          "RCV003019192"
        ],
        "variationId": 2098459
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102155509G>C?assembly=hg19",
        "id": "chr12:g.102155509G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101761731G>C?assembly=hg38",
        "id": "chr12:g.101761731G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143931833",
        "rs": 143931833
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101761731,
          "referenceAllele": "G",
          "start": 101761730
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      ],
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        "NC_000012.12:g.101761731G>C",
        "CM000674.2:g.101761731G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
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          "end": 102155509,
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          "start": 102155508
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      ],
      "hgvs": [
        "NC_000012.11:g.102155509G>C",
        "CM000674.1:g.102155509G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
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          "end": 100679640,
          "referenceAllele": "G",
          "start": 100679639
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100679640G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
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          "end": 74137,
          "referenceAllele": "C",
          "start": 74136
        }
      ],
      "hgvs": [
        "NG_021243.1:g.74137C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000299314.12:c.2748C>G"
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          "RefSeq": {
            "hgvs": "NM_024312.5:c.2748C>G"
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        },
        "protein": {
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            "hgvs": "ENSP00000299314.7:p.Tyr916Ter"
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          "RefSeq": {
            "hgvs": "NP_077288.2:p.Tyr916Ter"
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        }
      }
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      "coordinates": [
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          "start": 3010
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      ],
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      "geneNCBI_id": 79158,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580457206",
      "coordinates": [
        {
          "allele": "G",
          "end": 2940,
          "referenceAllele": "C",
          "start": 2939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.2748C>G"
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      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Tyr916Ter",
        "hgvsWellDefined": "NP_077288.2:p.Tyr916_Val1256delinsPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2935,
          "referenceAllele": "C",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Tyr916Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Tyr916_Asp1179delinsPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3481,
          "referenceAllele": "C",
          "start": 3480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Tyr889Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Tyr889_Val1229delinsPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2891,
          "referenceAllele": "C",
          "start": 2890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Tyr916Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Tyr916_Asp1179delinsPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2936,
          "referenceAllele": "C",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
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      "geneSymbol": "GNPTAB",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011537033.1:p.Tyr889_Val1229delinsPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2837,
          "referenceAllele": "C",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Tyr844Ter",
        "hgvsWellDefined": "XP_016875450.1:p.Tyr844_Val1184delinsPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3014,
          "referenceAllele": "C",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016875451.1:p.Tyr507_Val847delinsPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580457206",
      "coordinates": [
        {
          "allele": "G",
          "end": 3032,
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          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
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      "hgvs": [
        "NM_024312.5:c.2748C>G"
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      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Tyr916Ter",
        "hgvsWellDefined": "NP_077288.2:p.Tyr916_Val1256delinsPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.2748C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.2748C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Tyr916Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Tyr916Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}