{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381260631",
  "communityStandardTitle": [
    "NM_020680.4(SCYL1):c.256G>T (p.Glu86Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=439696[alleleid]",
        "alleleId": 439696,
        "preferredName": "NM_020680.4(SCYL1):c.256G>T (p.Glu86Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446292",
        "RCV": [
          "RCV000627806"
        ],
        "variationId": 446292
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.65293395G>T?assembly=hg19",
        "id": "chr11:g.65293395G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.65525924G>T?assembly=hg38",
        "id": "chr11:g.65525924G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554967761",
        "rs": 1554967761
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 65525924,
          "referenceAllele": "G",
          "start": 65525923
        }
      ],
      "hgvs": [
        "NC_000011.10:g.65525924G>T",
        "CM000673.2:g.65525924G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 65293395,
          "referenceAllele": "G",
          "start": 65293394
        }
      ],
      "hgvs": [
        "NC_000011.9:g.65293395G>T",
        "CM000673.1:g.65293395G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 65049971,
          "referenceAllele": "G",
          "start": 65049970
        }
      ],
      "hgvs": [
        "NC_000011.8:g.65049971G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5860,
          "referenceAllele": "G",
          "start": 5859
        }
      ],
      "hgvs": [
        "NG_047172.1:g.5860G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616691"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 327,
          "referenceAllele": "G",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "ENST00000270176.10:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270176.5:p.Glu86Ter",
        "hgvsWellDefined": "ENSP00000270176.5:p.Glu86_Asp808delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgGlnValLysAlaGluLeuAlaArgLysLysArgGluGluArgArgArgGluMetGluAlaLysArgAlaGluArgLysValAlaLysGlyProMetLysLeuGlyAlaArgLysLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743147",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270176.10:c.256G>T"
          },
          "RefSeq": {
            "hgvs": "NM_020680.4:c.256G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270176.5:p.Glu86Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065731.3:p.Glu86Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "ENST00000270176.9:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270176.5:p.Glu86Ter",
        "hgvsWellDefined": "ENSP00000270176.5:p.Glu86_Asp808delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgGlnValLysAlaGluLeuAlaArgLysLysArgGluGluArgArgArgGluMetGluAlaLysArgAlaGluArgLysValAlaLysGlyProMetLysLeuGlyAlaArgLysLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "G",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "ENST00000420247.6:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408192.2:p.Glu86Ter",
        "hgvsWellDefined": "ENSP00000408192.2:p.Glu86_Asp791delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgGlnValLysAlaGluLeuAlaArgLysLysArgGluGluArgArgArgGluMetGluAlaLysArgAlaGluArgLysValAlaLysGlyProMetLysLeuGlyAlaArgLysLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "ENST00000524944.5:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432175.1:p.Glu86Ter",
        "hgvsWellDefined": "ENSP00000432175.1:p.Glu86_Gly775delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgLysCysPheProTrpValGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "ENST00000525364.5:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431635.1:p.Glu86Ter",
        "hgvsWellDefined": "ENSP00000431635.1:p.Glu86_Pro780delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnAspArgSerArgLeuSerTrpProGlyArgSerAlaArgSerGlyGlyGlyArgTrpArgProAsnAlaProArgGlyArgTrpProArgAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "ENST00000527009.5:c.-174G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436993.1:n.-174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "ENST00000533862.5:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437254.1:p.Glu86Ter",
        "hgvsWellDefined": "ENSP00000437254.1:p.Glu86_Pro787delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnSerProThrGlyAlaAlaGlyLysLeuArgAlaProGlyAsnArgAlaGlyArgSerGlnAlaProArgSerHisLeuLeuThrValHisGlyTrpProAlaSerIleThrGlyValAlaGlnSerProAlaThrArgAlaThrProSerLeuProCysLeuHisValProAlaProSerArgGlyGlnThrLeuGlyValArgThrThrGlyArgAlaSerArgLeuThrValAspArgSerArgLeuSerTrpProGlyArgSerAlaArgSerGlyGlyGlyArgTrpArgProAsnAlaProArgGlyArgTrpProArgAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825432670",
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "NM_001048218.1:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001041683.1:p.Glu86Ter",
        "hgvsWellDefined": "NP_001041683.1:p.Glu86_Asp791delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgGlnValLysAlaGluLeuAlaArgLysLysArgGluGluArgArgArgGluMetGluAlaLysArgAlaGluArgLysValAlaLysGlyProMetLysLeuGlyAlaArgLysLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658820083",
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "NM_020680.3:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065731.3:p.Glu86Ter",
        "hgvsWellDefined": "NP_065731.3:p.Glu86_Asp808delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgGlnValLysAlaGluLeuAlaArgLysLysArgGluGluArgArgArgGluMetGluAlaLysArgAlaGluArgLysValAlaLysGlyProMetLysLeuGlyAlaArgLysLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "XM_005274118.2:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274175.1:p.Glu86Ter",
        "hgvsWellDefined": "XP_005274175.1:p.Glu86_Asp807delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgGlnValLysAlaGluLeuAlaArgLysLysArgGluGluArgArgArgGluMetGluAlaLysArgAlaGluArgLysValAlaLysGlyProMetLysLeuGlyAlaArgLysLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "XM_005274120.2:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274177.1:p.Glu86Ter",
        "hgvsWellDefined": "XP_005274177.1:p.Glu86_Pro781delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnAspArgSerArgLeuSerTrpProGlyArgSerAlaArgSerGlyGlyGlyArgTrpArgProAsnAlaProArgGlyArgTrpProArgAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "XM_005274121.2:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274178.1:p.Glu86Ter",
        "hgvsWellDefined": "XP_005274178.1:p.Glu86_Pro780delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnAspArgSerArgLeuSerTrpProGlyArgSerAlaArgSerGlyGlyGlyArgTrpArgProAsnAlaProArgGlyArgTrpProArgAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "XM_005274118.4:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274175.1:p.Glu86Ter",
        "hgvsWellDefined": "XP_005274175.1:p.Glu86_Asp807delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgGlnValLysAlaGluLeuAlaArgLysLysArgGluGluArgArgArgGluMetGluAlaLysArgAlaGluArgLysValAlaLysGlyProMetLysLeuGlyAlaArgLysLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "XM_005274120.4:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274177.1:p.Glu86Ter",
        "hgvsWellDefined": "XP_005274177.1:p.Glu86_Pro781delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnAspArgSerArgLeuSerTrpProGlyArgSerAlaArgSerGlyGlyGlyArgTrpArgProAsnAlaProArgGlyArgTrpProArgAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "XM_005274121.4:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274178.1:p.Glu86Ter",
        "hgvsWellDefined": "XP_005274178.1:p.Glu86_Pro780delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnAspArgSerArgLeuSerTrpProGlyArgSerAlaArgSerGlyGlyGlyArgTrpArgProAsnAlaProArgGlyArgTrpProArgAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "XM_017018030.2:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873519.1:p.Glu86Ter",
        "hgvsWellDefined": "XP_016873519.1:p.Glu86_Asp790delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgGlnValLysAlaGluLeuAlaArgLysLysArgGluGluArgArgArgGluMetGluAlaLysArgAlaGluArgLysValAlaLysGlyProMetLysLeuGlyAlaArgLysLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570077"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "XM_017018031.2:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873520.1:p.Glu86Ter",
        "hgvsWellDefined": "XP_016873520.1:p.Glu86_Pro764delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnAspArgSerArgLeuSerTrpProGlyArgSerAlaArgSerGlyGlyGlyArgTrpArgProAsnAlaProArgGlyArgTrpProArgAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 337,
          "referenceAllele": "G",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "XM_017018033.1:c.-174G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873522.1:n.-174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "XM_024448619.1:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304387.1:p.Glu86Ter",
        "hgvsWellDefined": "XP_024304387.1:p.Glu86_Asp847delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnValArgHisSerTrpAlaTrpAlaLeuGlyTrpGlyCysArgGlyCysGlnProLeuAlaGlyLeuValGlySerTrpGluProGlnArgProGlnLeuCysLeuValThrProGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgGlnValLysAlaGluLeuAlaArgLysLysArgGluGluArgArgArgGluMetGluAlaLysArgAlaGluArgLysValAlaLysGlyProMetLysLeuGlyAlaArgLysLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "XM_024448620.1:c.-174G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304388.1:n.-174G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658820083",
      "coordinates": [
        {
          "allele": "T",
          "end": 327,
          "referenceAllele": "G",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "NM_020680.4:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065731.3:p.Glu86Ter",
        "hgvsWellDefined": "NP_065731.3:p.Glu86_Asp808delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyValProAlaProAlaProThrProValProAlaThrProThrThrSerGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgGlnValLysAlaGluLeuAlaArgLysLysArgGluGluArgArgArgGluMetGluAlaLysArgAlaGluArgLysValAlaLysGlyProMetLysLeuGlyAlaArgLysLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670057",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270176.10:c.256G>T"
          },
          "RefSeq": {
            "hgvs": "NM_020680.4:c.256G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270176.5:p.Glu86Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065731.3:p.Glu86Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825432670",
      "coordinates": [
        {
          "allele": "T",
          "end": 327,
          "referenceAllele": "G",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014372",
      "geneNCBI_id": 57410,
      "geneSymbol": "SCYL1",
      "hgvs": [
        "NM_001048218.2:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001041683.1:p.Glu86Ter",
        "hgvsWellDefined": "NP_001041683.1:p.Glu86_Asp791delinsLysCysLeuHisValValThrGluAlaValThrProLeuGlyIleTyrLeuLysAlaArgValGluAlaGlyGlyLeuLysGluLeuGluIleSerTrpGlyLeuHisGlnIleValLysAlaLeuSerPheLeuValAsnAspCysSerLeuIleHisAsnAsnValCysMetAlaAlaValPheValAspArgAlaGlyGluTrpLysLeuGlyGlyLeuAspTyrMetTyrSerAlaGlnGlyAsnGlyGlyGlyProProArgLysGlyIleProGluLeuGluGlnTyrAspProProGluLeuAlaAspSerSerGlyArgValValArgGluLysTrpSerAlaAspMetTrpArgLeuGlyCysLeuIleTrpGluValPheAsnGlyProLeuProArgAlaAlaAlaLeuArgAsnProGlyLysIleProLysThrLeuValProHisTyrCysGluLeuValGlyAlaAsnProLysValArgProAsnProAlaArgPheLeuGlnAsnCysArgAlaProGlyGlyPheMetSerAsnArgPheValGluThrAsnLeuPheLeuGluGluIleGlnIleLysGluProAlaGluLysGlnLysPhePheGlnGluLeuSerLysSerLeuAspAlaPheProGluAspPheCysArgHisLysValLeuProGlnLeuLeuThrAlaPheGluPheGlyAsnAlaGlyAlaValValLeuThrProLeuPheLysValGlyLysPheLeuSerAlaGluGluTyrGlnGlnLysIleIleProValValValLysMetPheSerSerThrAspArgAlaMetArgIleArgLeuLeuGlnGlnMetGluGlnPheIleGlnTyrLeuAspGluProThrValAsnThrGlnIlePheProHisValValHisGlyPheLeuAspThrAsnProAlaIleArgGluGlnThrValLysSerMetLeuLeuLeuAlaProLysLeuAsnGluAlaAsnLeuAsnValGluLeuMetLysHisPheAlaArgLeuGlnAlaLysAspGluGlnGlyProIleArgCysAsnThrThrValCysLeuGlyLysIleGlySerTyrLeuSerAlaSerThrArgHisArgValLeuThrSerAlaPheSerArgAlaThrArgAspProPheAlaProSerArgValAlaGlyValLeuGlyPheAlaAlaThrHisAsnLeuTyrSerMetAsnAspCysAlaGlnLysIleLeuProValLeuCysGlyLeuThrValAspProGluLysSerValArgAspGlnAlaPheLysAlaIleArgSerPheLeuSerLysLeuGluSerValSerGluAspProThrGlnLeuGluGluValGluLysAspValHisAlaAlaSerSerProGlyMetGlyGlyAlaAlaAlaSerTrpAlaGlyTrpAlaValThrGlyValSerSerLeuThrSerLysLeuIleArgSerHisProThrThrAlaProThrGluThrAsnIleProGlnArgProThrProGluGlyHisTrpGluThrGlnGluGluAspLysAspThrAlaGluAspSerSerThrAlaAspArgTrpAspAspGluAspTrpGlySerLeuGluGlnGluAlaGluSerValLeuAlaGlnGlnAspAspTrpSerThrGlyGlyGlnValSerArgAlaSerGlnValSerAsnSerAspHisLysSerSerLysSerProGluSerAspTrpSerSerTrpGluAlaGluGlySerTrpGluGlnGlyTrpGlnGluProSerSerGlnGluProProProAspGlyThrArgLeuAlaSerGluTyrAsnTrpGlyGlyProGluSerSerAspLysGlyAspProPheAlaThrLeuSerAlaArgProSerThrGlnProArgProAspSerTrpGlyGluAspAsnTrpGluGlyLeuGluThrAspSerArgGlnValLysAlaGluLeuAlaArgLysLysArgGluGluArgArgArgGluMetGluAlaLysArgAlaGluArgLysValAlaLysGlyProMetLysLeuGlyAlaArgLysLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676113"
    }
  ],
  "type": "nucleotide"
}