{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401793129",
  "communityStandardTitle": [
    "NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972295[alleleid]",
        "alleleId": 972295,
        "preferredName": "NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984323",
        "RCV": [
          "RCV001264333"
        ],
        "variationId": 984323
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21120441C>A?assembly=hg19",
        "id": "chr18:g.21120441C>A"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23540477C>A?assembly=hg38",
        "id": "chr18:g.23540477C>A"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2058698654",
        "rs": 2058698654
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-23540477-C-A?dataset=gnomad_r4",
        "id": "18-23540477-C-A",
        "variant": "18:23540477 C / A"
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      "chromosome": "18",
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        {
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          "end": 23540477,
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
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          "start": 21120440
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "18",
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        {
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          "end": 19374439,
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          "start": 19374438
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      ],
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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          "end": 51141,
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      ],
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        "NG_012795.1:g.51141G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002534"
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  ],
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS743101",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_000271.5:c.2575G>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252154"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS362492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 365
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      ],
      "gene": "http://reg.genome.network/gene/GN007897",
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      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000586718.1:n.366G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS389589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "G",
          "start": 1652
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      ],
      "gene": "http://reg.genome.network/gene/GN007897",
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      "referenceSequence": "http://reg.genome.network/refseq/RS392618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139681980",
      "coordinates": [
        {
          "allele": "T",
          "end": 2849,
          "referenceAllele": "G",
          "start": 2848
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005258335.1:p.Gly876_Phe1295delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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        "hgvsWellDefined": "XP_005258336.1:p.Gly859_Cys1286delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_006722542.1:p.Gly876_Ser1273delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3037,
          "referenceAllele": "G",
          "start": 3036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_011526015.1:c.2161G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524317.1:p.Gly721Ter",
        "hgvsWellDefined": "XP_011524317.1:p.Gly721_Cys1148delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2789,
          "referenceAllele": "G",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.5:c.2626G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Gly876Ter",
        "hgvsWellDefined": "XP_005258335.1:p.Gly876_Phe1295delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2738,
          "referenceAllele": "G",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.2:c.2575G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Gly859Ter",
        "hgvsWellDefined": "XP_005258336.1:p.Gly859_Cys1286delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2789,
          "referenceAllele": "G",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.3:c.2626G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Gly876Ter",
        "hgvsWellDefined": "XP_006722542.1:p.Gly876_Ser1273delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2789,
          "referenceAllele": "G",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025784.1:c.2626G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881273.1:p.Gly876Ter",
        "hgvsWellDefined": "XP_016881273.1:p.Gly876_Gly1281delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2789,
          "referenceAllele": "G",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025785.1:c.2626G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881274.1:p.Gly876Ter",
        "hgvsWellDefined": "XP_016881274.1:p.Gly876_Phe1273delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaThrSerLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2738,
          "referenceAllele": "G",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025786.1:c.2575G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881275.1:p.Gly859Ter",
        "hgvsWellDefined": "XP_016881275.1:p.Gly859_Gly1264delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2738,
          "referenceAllele": "G",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025787.1:c.2575G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881276.1:p.Gly859Ter",
        "hgvsWellDefined": "XP_016881276.1:p.Gly859_Ser1256delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139681980",
      "coordinates": [
        {
          "allele": "T",
          "end": 2738,
          "referenceAllele": "G",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.5:c.2575G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Gly859Ter",
        "hgvsWellDefined": "NP_000262.2:p.Gly859_Phe1278delinsLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.2575G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.2575G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Gly859Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Gly859Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}