{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10606393",
  "communityStandardTitle": [
    "NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273494[alleleid]",
        "alleleId": 273494,
        "preferredName": "NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289257",
        "RCV": [
          "RCV000286951",
          "RCV000726304"
        ],
        "variationId": 289257
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21116653G>A?assembly=hg19",
        "id": "chr18:g.21116653G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23536689G>A?assembly=hg38",
        "id": "chr18:g.23536689G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750095738",
        "rs": 750095738
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-21116653-G-A?dataset=gnomad_r2_1",
        "id": "18-21116653-G-A",
        "variant": "18:21116653 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-23536689-G-A?dataset=gnomad_r4",
        "id": "18-23536689-G-A",
        "variant": "18:23536689 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 23536689,
          "referenceAllele": "G",
          "start": 23536688
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23536689G>A",
        "CM000680.2:g.23536689G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 21116653,
          "referenceAllele": "G",
          "start": 21116652
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21116653G>A",
        "CM000680.1:g.21116653G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 19370651,
          "referenceAllele": "G",
          "start": 19370650
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19370651G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54929,
          "referenceAllele": "C",
          "start": 54928
        }
      ],
      "hgvs": [
        "NG_012795.1:g.54929C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002534"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3392,
          "referenceAllele": "C",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.10:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Arg1077Ter",
        "hgvsWellDefined": "ENSP00000269228.4:p.Arg1077_Phe1278delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743101",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.3229C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.3229C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Arg1077Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Arg1077Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3784,
          "referenceAllele": "C",
          "start": 3783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.9:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Arg1077Ter",
        "hgvsWellDefined": "ENSP00000269228.4:p.Arg1077_Phe1278delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2307,
          "referenceAllele": "C",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591051.1:c.2307C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645411666",
      "coordinates": [
        {
          "allele": "T",
          "end": 3503,
          "referenceAllele": "C",
          "start": 3502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.4:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Arg1077Ter",
        "hgvsWellDefined": "NP_000262.2:p.Arg1077_Phe1278delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3443,
          "referenceAllele": "C",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258277.1:c.3280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258334.1:p.Arg1094Ter",
        "hgvsWellDefined": "XP_005258334.1:p.Arg1094_Cys1303delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3443,
          "referenceAllele": "C",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.3:c.3280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Arg1094Ter",
        "hgvsWellDefined": "XP_005258335.1:p.Arg1094_Phe1295delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3392,
          "referenceAllele": "C",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.1:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Arg1077Ter",
        "hgvsWellDefined": "XP_005258336.1:p.Arg1077_Cys1286delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3443,
          "referenceAllele": "C",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.2:c.3280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Arg1094Ter",
        "hgvsWellDefined": "XP_006722542.1:p.Arg1094_Ser1273delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3691,
          "referenceAllele": "C",
          "start": 3690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_011526015.1:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524317.1:p.Arg939Ter",
        "hgvsWellDefined": "XP_011524317.1:p.Arg939_Cys1148delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3443,
          "referenceAllele": "C",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.5:c.3280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Arg1094Ter",
        "hgvsWellDefined": "XP_005258335.1:p.Arg1094_Phe1295delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3392,
          "referenceAllele": "C",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.2:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Arg1077Ter",
        "hgvsWellDefined": "XP_005258336.1:p.Arg1077_Cys1286delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3443,
          "referenceAllele": "C",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.3:c.3280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Arg1094Ter",
        "hgvsWellDefined": "XP_006722542.1:p.Arg1094_Ser1273delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3443,
          "referenceAllele": "C",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025784.1:c.3280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881273.1:p.Arg1094Ter",
        "hgvsWellDefined": "XP_016881273.1:p.Arg1094_Gly1281delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3443,
          "referenceAllele": "C",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025785.1:c.3280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881274.1:p.Arg1094Ter",
        "hgvsWellDefined": "XP_016881274.1:p.Arg1094_Phe1273delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaThrSerLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3392,
          "referenceAllele": "C",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025786.1:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881275.1:p.Arg1077Ter",
        "hgvsWellDefined": "XP_016881275.1:p.Arg1077_Gly1264delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3392,
          "referenceAllele": "C",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025787.1:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881276.1:p.Arg1077Ter",
        "hgvsWellDefined": "XP_016881276.1:p.Arg1077_Ser1256delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645411666",
      "coordinates": [
        {
          "allele": "T",
          "end": 3392,
          "referenceAllele": "C",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.5:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Arg1077Ter",
        "hgvsWellDefined": "NP_000262.2:p.Arg1077_Phe1278delinsValPheProTyrSerValPheTyrValPheTyrGluGlnTyrLeuThrIleIleAspAspThrIlePheAsnLeuGlyValSerLeuGlyAlaIlePheLeuValThrMetValLeuLeuGlyCysGluLeuTrpSerAlaValIleMetCysAlaThrIleAlaMetValLeuValAsnMetPheGlyValMetTrpLeuTrpGlyIleSerLeuAsnAlaValSerLeuValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.3229C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.3229C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Arg1077Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Arg1077Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}