{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401791151",
  "communityStandardTitle": [
    "NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=549235[alleleid]",
        "alleleId": 549235,
        "preferredName": "NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/557189",
        "RCV": [
          "RCV000673297"
        ],
        "variationId": 557189
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.21115449A>T?assembly=hg19",
        "id": "chr18:g.21115449A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.23535485A>T?assembly=hg38",
        "id": "chr18:g.23535485A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555632182",
        "rs": 1555632182
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 23535485,
          "referenceAllele": "A",
          "start": 23535484
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23535485A>T",
        "CM000680.2:g.23535485A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 21115449,
          "referenceAllele": "A",
          "start": 21115448
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21115449A>T",
        "CM000680.1:g.21115449A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 19369447,
          "referenceAllele": "A",
          "start": 19369446
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19369447A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56133,
          "referenceAllele": "T",
          "start": 56132
        }
      ],
      "hgvs": [
        "NG_012795.1:g.56133T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002534"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3624,
          "referenceAllele": "T",
          "start": 3623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.10:c.3461T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Leu1154Ter",
        "hgvsWellDefined": "ENSP00000269228.4:p.Leu1154_Phe1278delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743101",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.3461T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.3461T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Leu1154Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Leu1154Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4016,
          "referenceAllele": "T",
          "start": 4015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.9:c.3461T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Leu1154Ter",
        "hgvsWellDefined": "ENSP00000269228.4:p.Leu1154_Phe1278delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "T",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000586150.5:c.216T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "T",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000588867.1:n.216T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2539,
          "referenceAllele": "T",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591051.1:c.2539T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "referenceAllele": "T",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591107.6:c.138T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825181",
      "coordinates": [
        {
          "allele": "A",
          "end": 3735,
          "referenceAllele": "T",
          "start": 3734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.4:c.3461T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Leu1154Ter",
        "hgvsWellDefined": "NP_000262.2:p.Leu1154_Phe1278delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3675,
          "referenceAllele": "T",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258277.1:c.3512T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258334.1:p.Leu1171Ter",
        "hgvsWellDefined": "XP_005258334.1:p.Leu1171_Cys1303delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3675,
          "referenceAllele": "T",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.3:c.3512T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Leu1171Ter",
        "hgvsWellDefined": "XP_005258335.1:p.Leu1171_Phe1295delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3624,
          "referenceAllele": "T",
          "start": 3623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.1:c.3461T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Leu1154Ter",
        "hgvsWellDefined": "XP_005258336.1:p.Leu1154_Cys1286delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3675,
          "referenceAllele": "T",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.2:c.3512T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Leu1171Ter",
        "hgvsWellDefined": "XP_006722542.1:p.Leu1171_Ser1273delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3923,
          "referenceAllele": "T",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_011526015.1:c.3047T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524317.1:p.Leu1016Ter",
        "hgvsWellDefined": "XP_011524317.1:p.Leu1016_Cys1148delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3675,
          "referenceAllele": "T",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.5:c.3512T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Leu1171Ter",
        "hgvsWellDefined": "XP_005258335.1:p.Leu1171_Phe1295delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3624,
          "referenceAllele": "T",
          "start": 3623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.2:c.3461T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Leu1154Ter",
        "hgvsWellDefined": "XP_005258336.1:p.Leu1154_Cys1286delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaLysLeuLeuGluArgThrIleTyrLeuCysIleSerGlnHisIleHisTyrAlaThrGlnMetAlaProLeuGlnCysLeuMetThrAlaSerAspArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3675,
          "referenceAllele": "T",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.3:c.3512T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Leu1171Ter",
        "hgvsWellDefined": "XP_006722542.1:p.Leu1171_Ser1273delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3675,
          "referenceAllele": "T",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025784.1:c.3512T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881273.1:p.Leu1171Ter",
        "hgvsWellDefined": "XP_016881273.1:p.Leu1171_Gly1281delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3675,
          "referenceAllele": "T",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025785.1:c.3512T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881274.1:p.Leu1171Ter",
        "hgvsWellDefined": "XP_016881274.1:p.Leu1171_Phe1273delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAlaThrSerLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3624,
          "referenceAllele": "T",
          "start": 3623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025786.1:c.3461T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881275.1:p.Leu1154Ter",
        "hgvsWellDefined": "XP_016881275.1:p.Leu1154_Gly1264delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleAspAspLeuLysValProValLeuGlnSerGluThrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3624,
          "referenceAllele": "T",
          "start": 3623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025787.1:c.3461T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881276.1:p.Leu1154Ter",
        "hgvsWellDefined": "XP_016881276.1:p.Leu1154_Ser1256delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProPheAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825181",
      "coordinates": [
        {
          "allele": "A",
          "end": 3624,
          "referenceAllele": "T",
          "start": 3623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.5:c.3461T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Leu1154Ter",
        "hgvsWellDefined": "NP_000262.2:p.Leu1154_Phe1278delinsValAsnLeuValMetSerCysGlyIleSerValGluPheCysSerHisIleThrArgAlaPheThrValSerMetLysGlySerArgValGluArgAlaGluGluAlaLeuAlaHisMetGlySerSerValPheSerGlyIleThrLeuThrLysPheGlyGlyIleValValLeuAlaPheAlaLysSerGlnIlePheGlnIlePheTyrPheArgMetTyrLeuAlaMetValLeuLeuGlyAlaThrHisGlyLeuIlePheLeuProValLeuLeuSerTyrIleGlyProSerValAsnLysAlaLysSerCysAlaThrGluGluArgTyrLysGlyThrGluArgGluArgLeuLeuAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.3461T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.3461T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Leu1154Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Leu1154Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}