{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6737976",
  "communityStandardTitle": [
    "NM_017988.6(SCYL2):c.106C>T (p.Arg36Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=430141",
        "active": true,
        "id": "COSM430141"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=799091[alleleid]",
        "alleleId": 799091,
        "preferredName": "NM_017988.6(SCYL2):c.106C>T (p.Arg36Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/810843",
        "RCV": [
          "RCV001000099"
        ],
        "variationId": 810843
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-100676854-C-T",
        "id": "12-100676854-C-T",
        "variant": "12:100676854 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.100676854C>T?assembly=hg19",
        "id": "chr12:g.100676854C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.100283076C>T?assembly=hg38",
        "id": "chr12:g.100283076C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760124743",
        "rs": 760124743
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-100676854-C-T?dataset=gnomad_r2_1",
        "id": "12-100676854-C-T",
        "variant": "12:100676854 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-100283076-C-T?dataset=gnomad_r4",
        "id": "12-100283076-C-T",
        "variant": "12:100283076 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 100283076,
          "referenceAllele": "C",
          "start": 100283075
        }
      ],
      "hgvs": [
        "NC_000012.12:g.100283076C>T",
        "CM000674.2:g.100283076C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 100676854,
          "referenceAllele": "C",
          "start": 100676853
        }
      ],
      "hgvs": [
        "NC_000012.11:g.100676854C>T",
        "CM000674.1:g.100676854C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 99200985,
          "referenceAllele": "C",
          "start": 99200984
        }
      ],
      "hgvs": [
        "NC_000012.10:g.99200985C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "ENST00000360820.7:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354061.2:p.Arg36Ter",
        "hgvsWellDefined": "ENSP00000354061.2:p.Arg36_Gly929delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749363",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360820.7:c.106C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017988.6:c.106C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354061.2:p.Arg36Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060458.3:p.Arg36Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "ENST00000360820.6:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354061.2:p.Arg36Ter",
        "hgvsWellDefined": "ENSP00000354061.2:p.Arg36_Gly929delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 220,
          "endIntronDirection": "-",
          "endIntronOffset": 8426,
          "referenceAllele": "C",
          "start": 220,
          "startIntronDirection": "-",
          "startIntronOffset": 8427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "ENST00000548392.5:c.-342-8427C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450294.1:n.-342-8427C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "ENST00000549687.5:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448366.1:p.Arg36Ter",
        "hgvsWellDefined": "ENSP00000448366.1:p.Arg36_Glu681del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "ENST00000550067.1:n.282C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "C",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "ENST00000635101.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489123.1:p.Arg36Ter",
        "hgvsWellDefined": "ENSP00000489123.1:p.Arg36_Gly933delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnAlaSerAsnMetIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139733770",
      "coordinates": [
        {
          "allele": "T",
          "end": 156,
          "referenceAllele": "C",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "NM_017988.4:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060458.3:p.Arg36Ter",
        "hgvsWellDefined": "NP_060458.3:p.Arg36_Gly929delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "XM_005269018.2:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269075.1:p.Arg36Ter",
        "hgvsWellDefined": "XP_005269075.1:p.Arg36_Gly929delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "XM_011538559.1:c.-550C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536861.1:n.-550C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "XM_011538560.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536862.1:p.Arg36Ter",
        "hgvsWellDefined": "XP_011536862.1:p.Arg36_Lys479delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnIleCysLeuLeuLysGlyGluGlyMetLeuProLeuSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826970716",
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "NM_001317784.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304713.1:p.Arg36Ter",
        "hgvsWellDefined": "NP_001304713.1:p.Arg36_Gly929delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827290367",
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "NM_001330253.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317182.1:p.Arg36Ter",
        "hgvsWellDefined": "NP_001317182.1:p.Arg36_Gly933delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnAlaSerAsnMetIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827290438",
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "NM_001330254.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317183.1:p.Arg36Ter",
        "hgvsWellDefined": "NP_001317183.1:p.Arg36_Gly933delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnAlaSerAsnMetIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "NM_001330256.1:c.-550C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317185.1:n.-550C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139733770",
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "NM_017988.5:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060458.3:p.Arg36Ter",
        "hgvsWellDefined": "NP_060458.3:p.Arg36_Gly929delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525846"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139733770",
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "NM_017988.6:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060458.3:p.Arg36Ter",
        "hgvsWellDefined": "NP_060458.3:p.Arg36_Gly929delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697926",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360820.7:c.106C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017988.6:c.106C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354061.2:p.Arg36Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060458.3:p.Arg36Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826970716",
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "NM_001317784.2:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304713.1:p.Arg36Ter",
        "hgvsWellDefined": "NP_001304713.1:p.Arg36_Gly929delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827290367",
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "NM_001330253.2:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317182.1:p.Arg36Ter",
        "hgvsWellDefined": "NP_001317182.1:p.Arg36_Gly933delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnAlaSerAsnMetIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718642"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827290438",
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "NM_001330254.2:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317183.1:p.Arg36Ter",
        "hgvsWellDefined": "NP_001317183.1:p.Arg36_Gly933delinsHisIleAlaSerGlyGlyAsnGlyLeuAlaTrpLysIlePheAsnGlyThrLysLysSerThrLysGlnGluValAlaValPheValPheAspLysLysLeuIleAspLysTyrGlnLysPheGluLysAspGlnIleIleAspSerLeuLysArgGlyValGlnGlnLeuThrArgLeuArgHisProArgLeuLeuThrValGlnHisProLeuGluGluSerArgAspCysLeuAlaPheCysThrGluProValPheAlaSerLeuAlaAsnValLeuGlyAsnTrpGluAsnLeuProSerProIleSerProAspIleLysAspTyrLysLeuTyrAspValGluThrLysTyrGlyLeuLeuGlnValSerGluGlyLeuSerPheLeuHisSerSerValLysMetValHisGlyAsnIleThrProGluAsnIleIleLeuAsnLysSerGlyAlaTrpLysIleMetGlyPheAspPheCysValSerSerThrAsnProSerGluGlnGluProLysPheProCysLysGluTrpAspProAsnLeuProSerLeuCysLeuProAsnProGluTyrLeuAlaProGluTyrIleLeuSerValSerCysGluThrAlaSerAspMetTyrSerLeuGlyThrValMetTyrAlaValPheAsnLysGlyLysProIlePheGluValAsnLysGlnAspIleTyrLysSerPheSerArgGlnLeuAspGlnLeuSerArgLeuGlySerSerSerLeuThrAsnIleProGluGluValArgGluHisValLysLeuLeuLeuAsnValThrProThrValArgProAspAlaAspGlnMetThrLysIleProPhePheAspAspValGlyAlaValThrLeuGlnTyrPheAspThrLeuPheGlnArgAspAsnLeuGlnLysSerGlnPhePheLysGlyLeuProLysValLeuProLysLeuProLysArgValIleValGlnArgIleLeuProCysLeuThrSerGluPheValAsnProAspMetValProPheValLeuProAsnValLeuLeuIleAlaGluGluCysThrLysGluGluTyrValLysLeuIleLeuProGluLeuGlyProValPheLysGlnGlnGluProIleGlnAlaSerAsnMetIleLeuLeuIlePheLeuGlnLysMetAspLeuLeuLeuThrLysThrProProAspGluIleLysAsnSerValLeuProMetValTyrArgAlaLeuGluAlaProSerIleGlnIleGlnGluLeuCysLeuAsnIleIleProThrPheAlaAsnLeuIleAspTyrProSerMetLysAsnAlaLeuIleProArgIleLysAsnAlaCysLeuGlnThrSerSerLeuAlaValArgValAsnSerLeuValCysLeuGlyLysIleLeuGluTyrLeuAspLysTrpPheValLeuAspAspIleLeuProPheLeuGlnGlnIleProSerLysGluProAlaValLeuMetGlyIleLeuGlyIleTyrLysCysThrPheThrHisLysLysLeuGlyIleThrLysGluGlnLeuAlaGlyLysValLeuProHisLeuIleProLeuSerIleGluAsnAsnLeuAsnLeuAsnGlnPheAsnSerPheIleSerValIleLysGluMetLeuAsnArgLeuGluSerGluHisLysThrLysLeuGluGlnLeuHisIleMetGlnGluGlnGlnLysSerLeuAspIleGlyAsnGlnMetAsnValSerGluGluMetLysValThrAsnIleGlyAsnGlnGlnIleAspLysValPheAsnAsnIleGlyAlaAspLeuLeuThrGlySerGluSerGluAsnLysGluAspGlyLeuGlnAsnLysHisLysArgAlaSerLeuThrLeuGluGluLysGlnLysLeuAlaLysGluGlnGluGlnAlaGlnLysLeuLysSerGlnGlnProLeuLysProGlnValHisThrProValAlaThrValLysGlnThrLysAspLeuThrAspThrLeuMetAspAsnMetSerSerLeuThrSerLeuSerValSerThrProLysSerSerAlaSerSerThrPheThrSerValProSerMetGlyIleGlyMetMetPheSerThrProThrAspAsnThrLysArgAsnLeuThrAsnGlyLeuAsnAlaAsnMetGlyPheGlnThrSerGlyPheAsnMetProValAsnThrAsnGlnAsnPheTyrSerSerProSerThrValGlyValThrLysMetThrLeuGlyThrProProThrLeuProAsnPheAsnAlaLeuSerValProProAlaGlyAlaLysGlnThrGlnGlnArgProThrAspMetSerAlaLeuAsnAsnLeuPheGlyProGlnLysProLysValSerMetAsnGlnLeuSerGlnGlnLysProAsnGlnTrpLeuAsnGlnPheValProProGlnGlySerProThrMetGlySerSerValMetGlyThrGlnMetAsnValIleGlyGlnSerAlaPheGlyMetGlnGlyAsnProPhePheAsnProGlnAsnPheAlaGlnProProThrThrMetThrAsnSerSerSerAlaSerAsnAspLeuLysAspLeuPheGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019286",
      "geneNCBI_id": 55681,
      "geneSymbol": "SCYL2",
      "hgvs": [
        "NM_001330256.2:c.-550C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317185.1:n.-550C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718645"
    }
  ],
  "type": "nucleotide"
}