{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401779745",
  "communityStandardTitle": [
    "NM_000271.5(NPC1):c.901G>T (p.Glu301Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972300[alleleid]",
        "alleleId": 972300,
        "preferredName": "NM_000271.5(NPC1):c.901G>T (p.Glu301Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983760",
        "RCV": [
          "RCV001263763"
        ],
        "variationId": 983760
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21137135C>A?assembly=hg19",
        "id": "chr18:g.21137135C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23557171C>A?assembly=hg38",
        "id": "chr18:g.23557171C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150154006",
        "rs": 150154006
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 23557171,
          "referenceAllele": "C",
          "start": 23557170
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23557171C>A",
        "CM000680.2:g.23557171C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 21137135,
          "referenceAllele": "C",
          "start": 21137134
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21137135C>A",
        "CM000680.1:g.21137135C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 19391133,
          "referenceAllele": "C",
          "start": 19391132
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19391133C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34447,
          "referenceAllele": "G",
          "start": 34446
        }
      ],
      "hgvs": [
        "NG_012795.1:g.34447G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002534"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.10:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Glu301Ter",
        "hgvsWellDefined": "ENSP00000269228.4:p.Glu301_Phe1278delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743101",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.901G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.901G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Glu301Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Glu301Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.9:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Glu301Ter",
        "hgvsWellDefined": "ENSP00000269228.4:p.Glu301_Phe1278delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000540608.5:n.815G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591051.1:c.132G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139681355",
      "coordinates": [
        {
          "allele": "T",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.4:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Glu301Ter",
        "hgvsWellDefined": "NP_000262.2:p.Glu301_Phe1278delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258277.1:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258334.1:p.Glu301Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.3:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Glu301Ter",
        "hgvsWellDefined": "XP_005258335.1:p.Glu301_Phe1295delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyThrAlaTrpLeuLeuThrSerThrPheProSerSerProValLeuProGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.1:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Glu301Ter",
        "hgvsWellDefined": "XP_005258336.1:p.Glu301_Cys1286delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.2:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Glu301Ter",
        "hgvsWellDefined": "XP_006722542.1:p.Glu301_Ser1273delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyThrAlaTrpLeuLeuThrSerThrPheProSerSerProValLeuProGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_011526015.1:c.436G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524317.1:p.Glu146Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.5:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Glu301Ter",
        "hgvsWellDefined": "XP_005258335.1:p.Glu301_Phe1295delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyThrAlaTrpLeuLeuThrSerThrPheProSerSerProValLeuProGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.2:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Glu301Ter",
        "hgvsWellDefined": "XP_005258336.1:p.Glu301_Cys1286delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.3:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Glu301Ter",
        "hgvsWellDefined": "XP_006722542.1:p.Glu301_Ser1273delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyThrAlaTrpLeuLeuThrSerThrPheProSerSerProValLeuProGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025784.1:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881273.1:p.Glu301Ter",
        "hgvsWellDefined": "XP_016881273.1:p.Glu301_Gly1281delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyThrAlaTrpLeuLeuThrSerThrPheProSerSerProValLeuProGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025785.1:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881274.1:p.Glu301Ter",
        "hgvsWellDefined": "XP_016881274.1:p.Glu301_Phe1273delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyThrAlaTrpLeuLeuThrSerThrPheProSerSerProValLeuProGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaThrSerLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025786.1:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881275.1:p.Glu301Ter",
        "hgvsWellDefined": "XP_016881275.1:p.Glu301_Gly1264delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025787.1:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881276.1:p.Glu301Ter",
        "hgvsWellDefined": "XP_016881276.1:p.Glu301_Ser1256delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139681355",
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.5:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Glu301Ter",
        "hgvsWellDefined": "NP_000262.2:p.Glu301_Phe1278delinsTyrThrProIleAspSerAsnIleAlaPheSerValAsnAlaSerAspLysGlyGluAlaSerCysCysAspProValSerAlaAlaPheGluGlyCysLeuArgArgLeuPheThrArgTrpGlySerPheCysValArgAsnProGlyCysValIlePhePheSerLeuValPheIleThrAlaCysSerSerGlyLeuValPheValArgValThrThrAsnProValAspLeuTrpSerAlaProSerSerGlnAlaArgLeuGluLysGluTyrPheAspGlnHisPheGlyProPhePheArgThrGluGlnLeuIleIleArgAlaProLeuThrAspLysHisIleTyrGlnProTyrProSerGlyAlaAspValProPheGlyProProLeuAspIleGlnIleLeuHisGlnValLeuAspLeuGlnIleAlaIleGluAsnIleThrAlaSerTyrAspAsnGluThrValThrLeuGlnAspIleCysLeuAlaProLeuSerProTyrAsnThrAsnCysThrIleLeuSerValLeuAsnTyrPheGlnAsnSerHisSerValLeuAspHisLysLysGlyAspAspPhePheValTyrAlaAspTyrHisThrHisPheLeuTyrCysValArgAlaProAlaSerLeuAsnAspThrSerLeuLeuHisAspProCysLeuGlyThrPheGlyGlyProValPheProTrpLeuValLeuGlyGlyTyrAspAspGlnAsnTyrAsnAsnAlaThrAlaLeuValIleThrPheProValAsnAsnTyrTyrAsnAspThrGluLysLeuGlnArgAlaGlnAlaTrpGluLysGluPheIleAsnPheValLysAsnTyrLysAsnProAsnLeuThrIleSerPheThrAlaGluArgSerIleGluAspGluLeuAsnArgGluSerAspSerAspValPheThrValValIleSerTyrAlaIleMetPheLeuTyrIleSerLeuAlaLeuGlyHisMetLysSerCysArgArgLeuLeuValAspSerLysValSerLeuGlyIleAlaGlyIleLeuIleValLeuSerSerValAlaCysSerLeuGlyValPheSerTyrIleGlyLeuProLeuThrLeuIleValIleGluValIleProPheLeuValLeuAlaValGlyValAspAsnIlePheIleLeuValGlnAlaTyrGlnArgAspGluArgLeuGlnGlyGluThrLeuAspGlnGlnLeuGlyArgValLeuGlyGluValAlaProSerMetPheLeuSerSerPheSerGluThrValAlaPhePheLeuGlyAlaLeuSerValMetProAlaValHisThrPheSerLeuPheAlaGlyLeuAlaValPheIleAspPheLeuLeuGlnIleThrCysPheValSerLeuLeuGlyLeuAspIleLysArgGlnGluLysAsnArgLeuAspIlePheCysCysValArgGlyAlaGluAspGlyThrSerValGlnAlaSerGluSerCysLeuPheArgPhePheLysAsnSerTyrSerProLeuLeuLeuLysAspTrpMetArgProIleValIleAlaIlePheValGlyValLeuSerPheSerIleAlaValLeuAsnLysValAspIleGlyLeuAspGlnSerLeuSerMetProAspAspSerTyrMetValAspTyrPheLysSerIleSerGlnTyrLeuHisAlaGlyProProValTyrPheValLeuGluGluGlyHisAspTyrThrSerSerLysGlyGlnAsnMetValCysGlyGlyMetGlyCysAsnAsnAspSerLeuValGlnGlnIlePheAsnAlaAlaGlnLeuAspAsnTyrThrArgIleGlyPheAlaProSerSerTrpIleAspAspTyrPheAspTrpValLysProGlnSerSerCysCysArgValAspAsnIleThrAspGlnPheCysAsnAlaSerValValAspProAlaCysValArgCysArgProLeuThrProGluGlyLysGlnArgProGlnGlyGlyAspPheMetArgPheLeuProMetPheLeuSerAspAsnProAsnProLysCysGlyLysGlyGlyHisAlaAlaTyrSerSerAlaValAsnIleLeuLeuGlyHisGlyThrArgValGlyAlaThrTyrPheMetThrTyrHisThrValLeuGlnThrSerAlaAspPheIleAspAlaLeuLysLysAlaArgLeuIleAlaSerAsnValThrGluThrMetGlyIleAsnGlySerAlaTyrArgValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.901G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.901G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Glu301Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Glu301Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}