{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401777922",
  "communityStandardTitle": [
    "NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513372[alleleid]",
        "alleleId": 513372,
        "preferredName": "NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522757",
        "RCV": [
          "RCV000625917"
        ],
        "variationId": 522757
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21136362C>A?assembly=hg19",
        "id": "chr18:g.21136362C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23556398C>A?assembly=hg38",
        "id": "chr18:g.23556398C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555637139",
        "rs": 1555637139
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 23556398,
          "referenceAllele": "C",
          "start": 23556397
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23556398C>A",
        "CM000680.2:g.23556398C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 21136362,
          "referenceAllele": "C",
          "start": 21136361
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21136362C>A",
        "CM000680.1:g.21136362C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 19390360,
          "referenceAllele": "C",
          "start": 19390359
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19390360C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35220,
          "referenceAllele": "G",
          "start": 35219
        }
      ],
      "hgvs": [
        "NG_012795.1:g.35220G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002534"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.10:c.1171G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Glu391Ter",
        "hgvsWellDefined": "ENSP00000269228.4:p.Glu391_Phe1278delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743101",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.1171G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.1171G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Glu391Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Glu391Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1726,
          "referenceAllele": "G",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.9:c.1171G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Glu391Ter",
        "hgvsWellDefined": "ENSP00000269228.4:p.Glu391_Phe1278delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000540608.5:n.1085G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591051.1:c.453G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804761",
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "G",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.4:c.1171G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Glu391Ter",
        "hgvsWellDefined": "NP_000262.2:p.Glu391_Phe1278delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258277.1:c.1222G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258334.1:p.Glu408Ter",
        "hgvsWellDefined": "XP_005258334.1:p.Glu408_Cys1303delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.3:c.1222G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Glu408Ter",
        "hgvsWellDefined": "XP_005258335.1:p.Glu408_Phe1295delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.1:c.1171G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Glu391Ter",
        "hgvsWellDefined": "XP_005258336.1:p.Glu391_Cys1286delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.2:c.1222G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Glu408Ter",
        "hgvsWellDefined": "XP_006722542.1:p.Glu408_Ser1273delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1633,
          "referenceAllele": "G",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_011526015.1:c.757G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524317.1:p.Glu253Ter",
        "hgvsWellDefined": "XP_011524317.1:p.Glu253_Cys1148delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.5:c.1222G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Glu408Ter",
        "hgvsWellDefined": "XP_005258335.1:p.Glu408_Phe1295delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.2:c.1171G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Glu391Ter",
        "hgvsWellDefined": "XP_005258336.1:p.Glu391_Cys1286delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.3:c.1222G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Glu408Ter",
        "hgvsWellDefined": "XP_006722542.1:p.Glu408_Ser1273delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025784.1:c.1222G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881273.1:p.Glu408Ter",
        "hgvsWellDefined": "XP_016881273.1:p.Glu408_Gly1281delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025785.1:c.1222G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881274.1:p.Glu408Ter",
        "hgvsWellDefined": "XP_016881274.1:p.Glu408_Phe1273delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaThrSerLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025786.1:c.1171G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881275.1:p.Glu391Ter",
        "hgvsWellDefined": "XP_016881275.1:p.Glu391_Gly1264delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025787.1:c.1171G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881276.1:p.Glu391Ter",
        "hgvsWellDefined": "XP_016881276.1:p.Glu391_Ser1256delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804761",
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.5:c.1171G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Glu391Ter",
        "hgvsWellDefined": "NP_000262.2:p.Glu391_Phe1278delinsLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.1171G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.1171G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Glu391Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Glu391Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}