{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406506559",
  "communityStandardTitle": [
    "NM_004491.5(ARHGAP35):c.1600C>T (p.Gln534Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1691747[alleleid]",
        "alleleId": 1691747,
        "preferredName": "NM_004491.5(ARHGAP35):c.1600C>T (p.Gln534Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1699373",
        "RCV": [
          "RCV002273230"
        ],
        "variationId": 1699373
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.47423532C>T?assembly=hg19",
        "id": "chr19:g.47423532C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.46920275C>T?assembly=hg38",
        "id": "chr19:g.46920275C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2056190516",
        "rs": 2056190516
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 46920275,
          "referenceAllele": "C",
          "start": 46920274
        }
      ],
      "hgvs": [
        "NC_000019.10:g.46920275C>T",
        "CM000681.2:g.46920275C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 47423532,
          "referenceAllele": "C",
          "start": 47423531
        }
      ],
      "hgvs": [
        "NC_000019.9:g.47423532C>T",
        "CM000681.1:g.47423532C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 52115372,
          "referenceAllele": "C",
          "start": 52115371
        }
      ],
      "hgvs": [
        "NC_000019.8:g.52115372C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6709,
          "referenceAllele": "C",
          "start": 6708
        }
      ],
      "hgvs": [
        "NG_047014.1:g.6709C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64279,
          "referenceAllele": "C",
          "start": 64278
        }
      ],
      "hgvs": [
        "NG_047014.2:g.64279C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004591",
      "geneNCBI_id": 2909,
      "geneSymbol": "ARHGAP35",
      "hgvs": [
        "ENST00000404338.8:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385720.2:p.Gln534Ter",
        "hgvsWellDefined": "ENSP00000385720.2:p.Gln534_Leu1499delinsLysLeuGlnAlaGluArgAspAlaLeuIleLeuLysHisIleHisPheValTyrHisProThrLysGluThrCysProSerCysProAlaCysValAspAlaLysIleGluHisLeuIleSerSerArgPheIleArgProSerAspArgAsnGlnLysAsnSerLeuSerAspProAsnIleAspArgIleAsnLeuValIleLeuGlyLysAspGlyLeuAlaArgGluLeuAlaAsnGluIleArgAlaLeuCysThrAsnAspAspLysTyrValIleAspGlyLysMetTyrGluLeuSerLeuArgProIleGluGlyAsnValArgLeuProValAsnSerPheGlnThrProThrPheGlnProHisGlyCysLeuCysLeuTyrAsnSerLysGluSerLeuSerTyrValValGluSerIleGluLysSerArgGluSerThrLeuGlyArgArgAspAsnHisLeuValHisLeuProLeuThrLeuIleLeuValAsnLysArgGlyAspThrSerGlyGluThrLeuHisSerLeuIleGlnGlnGlyGlnGlnIleAlaSerLysLeuGlnCysValPheLeuAspProAlaSerAlaGlyIleGlyTyrGlyArgAsnIleAsnGluLysGlnIleSerGlnValLeuLysGlyLeuLeuAspSerLysArgAsnLeuAsnLeuValSerSerThrAlaSerIleLysAspLeuAlaAspValAspLeuArgIleValMetCysLeuMetCysGlyAspProPheSerAlaAspAspIleLeuPheProValLeuGlnSerGlnThrCysLysSerSerHisCysGlySerAsnAsnSerValLeuLeuGluLeuProIleGlyLeuHisLysLysArgIleGluLeuSerValLeuSerTyrHisSerSerPheSerIleArgLysSerArgLeuValHisGlyTyrIleValPheTyrSerAlaLysArgLysAlaSerLeuAlaMetLeuArgAlaPheLeuCysGluValGlnAspIleIleProIleGlnLeuValAlaLeuThrAspGlyAlaValAspValLeuAspAsnAspLeuSerArgGluGlnLeuThrGluGlyGluGluIleAlaGlnGluIleAspGlyArgPheThrSerIleProCysSerGlnProGlnHisLysLeuGluIlePheHisProPhePheLysAspValValGluLysLysAsnIleIleGluAlaThrHisMetTyrAspAsnAlaAlaGluAlaCysSerThrThrGluGluValPheAsnSerProArgAlaGlySerProLeuCysAsnSerAsnLeuGlnAspSerGluGluAspIleGluProSerTyrSerLeuPheArgGluAspThrSerLeuProSerLeuSerLysAspHisSerLysLeuSerMetGluLeuGluGlyAsnAspGlyLeuSerPheIleMetSerAsnPheGluSerLysLeuAsnAsnLysValProProProValLysProLysProProValHisPheGluIleThrLysGlyAspLeuSerTyrLeuAspGlnGlyHisArgAspGlyGlnArgLysSerValSerSerSerProTrpLeuProGlnAspGlyPheAspProSerAspTyrAlaGluProMetAspAlaValValLysProArgAsnGluGluGluAsnIleTyrSerValProHisAspSerThrGlnGlyLysIleIleThrIleArgAsnIleAsnLysAlaGlnSerAsnGlySerGlyAsnGlySerAspSerGluMetAspThrSerSerLeuGluArgGlyArgLysValSerIleValSerLysProValLeuTyrArgThrArgCysThrArgLeuGlyArgPheAlaSerTyrArgThrSerPheSerValGlySerAspAspGluLeuGlyProIleArgLysLysGluGluAspGlnAlaSerGlnGlyTyrLysGlyAspAsnAlaValIleProTyrGluThrAspGluAspProArgArgArgAsnIleLeuArgSerLeuArgArgAsnThrLysLysProLysProLysProArgProSerIleThrLysAlaThrTrpGluSerAsnTyrPheGlyValProLeuThrThrValValThrProGluLysProIleProIlePheIleGluArgCysIleGluTyrIleGluAlaThrGlyLeuSerThrGluGlyIleTyrArgValSerGlyAsnLysSerGluMetGluSerLeuGlnArgGlnPheAspGlnAspHisAsnLeuAspLeuAlaGluLysAspPheThrValAsnThrValAlaGlyAlaMetLysSerPhePheSerGluLeuProAspProLeuValProTyrAsnMetGlnIleAspLeuValGluAlaHisLysIleAsnAspArgGluGlnLysLeuHisAlaLeuLysGluValLeuLysLysPheProLysGluAsnHisGluValPheLysTyrValIleSerHisLeuAsnLysValSerHisAsnAsnLysValAsnLeuMetThrSerGluAsnLeuSerIleCysPheTrpProThrLeuMetArgProAspPheSerThrMetAspAlaLeuThrAlaThrArgThrTyrGlnThrIleIleGluLeuPheIleGlnGlnCysProPhePhePheTyrAsnArgProIleThrGluProProGlyAlaArgProSerSerProSerAlaValAlaSerThrValProPheLeuThrSerThrProValThrSerGlnProSerProProGlnSerProProProThrProGlnSerProMetGlnProLeuLeuProSerGlnLeuGlnAlaGluHisThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004591",
      "geneNCBI_id": 2909,
      "geneSymbol": "ARHGAP35",
      "hgvs": [
        "ENST00000672722.1:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500409.1:p.Gln534Ter",
        "hgvsWellDefined": "ENSP00000500409.1:p.Gln534_Leu1499delinsLysLeuGlnAlaGluArgAspAlaLeuIleLeuLysHisIleHisPheValTyrHisProThrLysGluThrCysProSerCysProAlaCysValAspAlaLysIleGluHisLeuIleSerSerArgPheIleArgProSerAspArgAsnGlnLysAsnSerLeuSerAspProAsnIleAspArgIleAsnLeuValIleLeuGlyLysAspGlyLeuAlaArgGluLeuAlaAsnGluIleArgAlaLeuCysThrAsnAspAspLysTyrValIleAspGlyLysMetTyrGluLeuSerLeuArgProIleGluGlyAsnValArgLeuProValAsnSerPheGlnThrProThrPheGlnProHisGlyCysLeuCysLeuTyrAsnSerLysGluSerLeuSerTyrValValGluSerIleGluLysSerArgGluSerThrLeuGlyArgArgAspAsnHisLeuValHisLeuProLeuThrLeuIleLeuValAsnLysArgGlyAspThrSerGlyGluThrLeuHisSerLeuIleGlnGlnGlyGlnGlnIleAlaSerLysLeuGlnCysValPheLeuAspProAlaSerAlaGlyIleGlyTyrGlyArgAsnIleAsnGluLysGlnIleSerGlnValLeuLysGlyLeuLeuAspSerLysArgAsnLeuAsnLeuValSerSerThrAlaSerIleLysAspLeuAlaAspValAspLeuArgIleValMetCysLeuMetCysGlyAspProPheSerAlaAspAspIleLeuPheProValLeuGlnSerGlnThrCysLysSerSerHisCysGlySerAsnAsnSerValLeuLeuGluLeuProIleGlyLeuHisLysLysArgIleGluLeuSerValLeuSerTyrHisSerSerPheSerIleArgLysSerArgLeuValHisGlyTyrIleValPheTyrSerAlaLysArgLysAlaSerLeuAlaMetLeuArgAlaPheLeuCysGluValGlnAspIleIleProIleGlnLeuValAlaLeuThrAspGlyAlaValAspValLeuAspAsnAspLeuSerArgGluGlnLeuThrGluGlyGluGluIleAlaGlnGluIleAspGlyArgPheThrSerIleProCysSerGlnProGlnHisLysLeuGluIlePheHisProPhePheLysAspValValGluLysLysAsnIleIleGluAlaThrHisMetTyrAspAsnAlaAlaGluAlaCysSerThrThrGluGluValPheAsnSerProArgAlaGlySerProLeuCysAsnSerAsnLeuGlnAspSerGluGluAspIleGluProSerTyrSerLeuPheArgGluAspThrSerLeuProSerLeuSerLysAspHisSerLysLeuSerMetGluLeuGluGlyAsnAspGlyLeuSerPheIleMetSerAsnPheGluSerLysLeuAsnAsnLysValProProProValLysProLysProProValHisPheGluIleThrLysGlyAspLeuSerTyrLeuAspGlnGlyHisArgAspGlyGlnArgLysSerValSerSerSerProTrpLeuProGlnAspGlyPheAspProSerAspTyrAlaGluProMetAspAlaValValLysProArgAsnGluGluGluAsnIleTyrSerValProHisAspSerThrGlnGlyLysIleIleThrIleArgAsnIleAsnLysAlaGlnSerAsnGlySerGlyAsnGlySerAspSerGluMetAspThrSerSerLeuGluArgGlyArgLysValSerIleValSerLysProValLeuTyrArgThrArgCysThrArgLeuGlyArgPheAlaSerTyrArgThrSerPheSerValGlySerAspAspGluLeuGlyProIleArgLysLysGluGluAspGlnAlaSerGlnGlyTyrLysGlyAspAsnAlaValIleProTyrGluThrAspGluAspProArgArgArgAsnIleLeuArgSerLeuArgArgAsnThrLysLysProLysProLysProArgProSerIleThrLysAlaThrTrpGluSerAsnTyrPheGlyValProLeuThrThrValValThrProGluLysProIleProIlePheIleGluArgCysIleGluTyrIleGluAlaThrGlyLeuSerThrGluGlyIleTyrArgValSerGlyAsnLysSerGluMetGluSerLeuGlnArgGlnPheAspGlnAspHisAsnLeuAspLeuAlaGluLysAspPheThrValAsnThrValAlaGlyAlaMetLysSerPhePheSerGluLeuProAspProLeuValProTyrAsnMetGlnIleAspLeuValGluAlaHisLysIleAsnAspArgGluGlnLysLeuHisAlaLeuLysGluValLeuLysLysPheProLysGluAsnHisGluValPheLysTyrValIleSerHisLeuAsnLysValSerHisAsnAsnLysValAsnLeuMetThrSerGluAsnLeuSerIleCysPheTrpProThrLeuMetArgProAspPheSerThrMetAspAlaLeuThrAlaThrArgThrTyrGlnThrIleIleGluLeuPheIleGlnGlnCysProPhePhePheTyrAsnArgProIleThrGluProProGlyAlaArgProSerSerProSerAlaValAlaSerThrValProPheLeuThrSerThrProValThrSerGlnProSerProProGlnSerProProProThrProGlnSerProMetGlnProLeuLeuProSerGlnLeuGlnAlaGluHisThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000672722.1:c.1600C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004491.5:c.1600C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000500409.1:p.Gln534Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004482.4:p.Gln534Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004591",
      "geneNCBI_id": 2909,
      "geneSymbol": "ARHGAP35",
      "hgvs": [
        "ENST00000404338.7:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385720.2:p.Gln534Ter",
        "hgvsWellDefined": "ENSP00000385720.2:p.Gln534_Leu1499delinsLysLeuGlnAlaGluArgAspAlaLeuIleLeuLysHisIleHisPheValTyrHisProThrLysGluThrCysProSerCysProAlaCysValAspAlaLysIleGluHisLeuIleSerSerArgPheIleArgProSerAspArgAsnGlnLysAsnSerLeuSerAspProAsnIleAspArgIleAsnLeuValIleLeuGlyLysAspGlyLeuAlaArgGluLeuAlaAsnGluIleArgAlaLeuCysThrAsnAspAspLysTyrValIleAspGlyLysMetTyrGluLeuSerLeuArgProIleGluGlyAsnValArgLeuProValAsnSerPheGlnThrProThrPheGlnProHisGlyCysLeuCysLeuTyrAsnSerLysGluSerLeuSerTyrValValGluSerIleGluLysSerArgGluSerThrLeuGlyArgArgAspAsnHisLeuValHisLeuProLeuThrLeuIleLeuValAsnLysArgGlyAspThrSerGlyGluThrLeuHisSerLeuIleGlnGlnGlyGlnGlnIleAlaSerLysLeuGlnCysValPheLeuAspProAlaSerAlaGlyIleGlyTyrGlyArgAsnIleAsnGluLysGlnIleSerGlnValLeuLysGlyLeuLeuAspSerLysArgAsnLeuAsnLeuValSerSerThrAlaSerIleLysAspLeuAlaAspValAspLeuArgIleValMetCysLeuMetCysGlyAspProPheSerAlaAspAspIleLeuPheProValLeuGlnSerGlnThrCysLysSerSerHisCysGlySerAsnAsnSerValLeuLeuGluLeuProIleGlyLeuHisLysLysArgIleGluLeuSerValLeuSerTyrHisSerSerPheSerIleArgLysSerArgLeuValHisGlyTyrIleValPheTyrSerAlaLysArgLysAlaSerLeuAlaMetLeuArgAlaPheLeuCysGluValGlnAspIleIleProIleGlnLeuValAlaLeuThrAspGlyAlaValAspValLeuAspAsnAspLeuSerArgGluGlnLeuThrGluGlyGluGluIleAlaGlnGluIleAspGlyArgPheThrSerIleProCysSerGlnProGlnHisLysLeuGluIlePheHisProPhePheLysAspValValGluLysLysAsnIleIleGluAlaThrHisMetTyrAspAsnAlaAlaGluAlaCysSerThrThrGluGluValPheAsnSerProArgAlaGlySerProLeuCysAsnSerAsnLeuGlnAspSerGluGluAspIleGluProSerTyrSerLeuPheArgGluAspThrSerLeuProSerLeuSerLysAspHisSerLysLeuSerMetGluLeuGluGlyAsnAspGlyLeuSerPheIleMetSerAsnPheGluSerLysLeuAsnAsnLysValProProProValLysProLysProProValHisPheGluIleThrLysGlyAspLeuSerTyrLeuAspGlnGlyHisArgAspGlyGlnArgLysSerValSerSerSerProTrpLeuProGlnAspGlyPheAspProSerAspTyrAlaGluProMetAspAlaValValLysProArgAsnGluGluGluAsnIleTyrSerValProHisAspSerThrGlnGlyLysIleIleThrIleArgAsnIleAsnLysAlaGlnSerAsnGlySerGlyAsnGlySerAspSerGluMetAspThrSerSerLeuGluArgGlyArgLysValSerIleValSerLysProValLeuTyrArgThrArgCysThrArgLeuGlyArgPheAlaSerTyrArgThrSerPheSerValGlySerAspAspGluLeuGlyProIleArgLysLysGluGluAspGlnAlaSerGlnGlyTyrLysGlyAspAsnAlaValIleProTyrGluThrAspGluAspProArgArgArgAsnIleLeuArgSerLeuArgArgAsnThrLysLysProLysProLysProArgProSerIleThrLysAlaThrTrpGluSerAsnTyrPheGlyValProLeuThrThrValValThrProGluLysProIleProIlePheIleGluArgCysIleGluTyrIleGluAlaThrGlyLeuSerThrGluGlyIleTyrArgValSerGlyAsnLysSerGluMetGluSerLeuGlnArgGlnPheAspGlnAspHisAsnLeuAspLeuAlaGluLysAspPheThrValAsnThrValAlaGlyAlaMetLysSerPhePheSerGluLeuProAspProLeuValProTyrAsnMetGlnIleAspLeuValGluAlaHisLysIleAsnAspArgGluGlnLysLeuHisAlaLeuLysGluValLeuLysLysPheProLysGluAsnHisGluValPheLysTyrValIleSerHisLeuAsnLysValSerHisAsnAsnLysValAsnLeuMetThrSerGluAsnLeuSerIleCysPheTrpProThrLeuMetArgProAspPheSerThrMetAspAlaLeuThrAlaThrArgThrTyrGlnThrIleIleGluLeuPheIleGlnGlnCysProPhePhePheTyrAsnArgProIleThrGluProProGlyAlaArgProSerSerProSerAlaValAlaSerThrValProPheLeuThrSerThrProValThrSerGlnProSerProProGlnSerProProProThrProGlnSerProMetGlnProLeuLeuProSerGlnLeuGlnAlaGluHisThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004591",
      "geneNCBI_id": 2909,
      "geneSymbol": "ARHGAP35",
      "hgvs": [
        "ENST00000614079.1:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483730.1:p.Gln534Ter",
        "hgvsWellDefined": "ENSP00000483730.1:p.Gln534_Leu1499delinsLysLeuGlnAlaGluArgAspAlaLeuIleLeuLysHisIleHisPheValTyrHisProThrLysGluThrCysProSerCysProAlaCysValAspAlaLysIleGluHisLeuIleSerSerArgPheIleArgProSerAspArgAsnGlnLysAsnSerLeuSerAspProAsnIleAspArgIleAsnLeuValIleLeuGlyLysAspGlyLeuAlaArgGluLeuAlaAsnGluIleArgAlaLeuCysThrAsnAspAspLysTyrValIleAspGlyLysMetTyrGluLeuSerLeuArgProIleGluGlyAsnValArgLeuProValAsnSerPheGlnThrProThrPheGlnProHisGlyCysLeuCysLeuTyrAsnSerLysGluSerLeuSerTyrValValGluSerIleGluLysSerArgGluSerThrLeuGlyArgArgAspAsnHisLeuValHisLeuProLeuThrLeuIleLeuValAsnLysArgGlyAspThrSerGlyGluThrLeuHisSerLeuIleGlnGlnGlyGlnGlnIleAlaSerLysLeuGlnCysValPheLeuAspProAlaSerAlaGlyIleGlyTyrGlyArgAsnIleAsnGluLysGlnIleSerGlnValLeuLysGlyLeuLeuAspSerLysArgAsnLeuAsnLeuValSerSerThrAlaSerIleLysAspLeuAlaAspValAspLeuArgIleValMetCysLeuMetCysGlyAspProPheSerAlaAspAspIleLeuPheProValLeuGlnSerGlnThrCysLysSerSerHisCysGlySerAsnAsnSerValLeuLeuGluLeuProIleGlyLeuHisLysLysArgIleGluLeuSerValLeuSerTyrHisSerSerPheSerIleArgLysSerArgLeuValHisGlyTyrIleValPheTyrSerAlaLysArgLysAlaSerLeuAlaMetLeuArgAlaPheLeuCysGluValGlnAspIleIleProIleGlnLeuValAlaLeuThrAspGlyAlaValAspValLeuAspAsnAspLeuSerArgGluGlnLeuThrGluGlyGluGluIleAlaGlnGluIleAspGlyArgPheThrSerIleProCysSerGlnProGlnHisLysLeuGluIlePheHisProPhePheLysAspValValGluLysLysAsnIleIleGluAlaThrHisMetTyrAspAsnAlaAlaGluAlaCysSerThrThrGluGluValPheAsnSerProArgAlaGlySerProLeuCysAsnSerAsnLeuGlnAspSerGluGluAspIleGluProSerTyrSerLeuPheArgGluAspThrSerLeuProSerLeuSerLysAspHisSerLysLeuSerMetGluLeuGluGlyAsnAspGlyLeuSerPheIleMetSerAsnPheGluSerLysLeuAsnAsnLysValProProProValLysProLysProProValHisPheGluIleThrLysGlyAspLeuSerTyrLeuAspGlnGlyHisArgAspGlyGlnArgLysSerValSerSerSerProTrpLeuProGlnAspGlyPheAspProSerAspTyrAlaGluProMetAspAlaValValLysProArgAsnGluGluGluAsnIleTyrSerValProHisAspSerThrGlnGlyLysIleIleThrIleArgAsnIleAsnLysAlaGlnSerAsnGlySerGlyAsnGlySerAspSerGluMetAspThrSerSerLeuGluArgGlyArgLysValSerIleValSerLysProValLeuTyrArgThrArgCysThrArgLeuGlyArgPheAlaSerTyrArgThrSerPheSerValGlySerAspAspGluLeuGlyProIleArgLysLysGluGluAspGlnAlaSerGlnGlyTyrLysGlyAspAsnAlaValIleProTyrGluThrAspGluAspProArgArgArgAsnIleLeuArgSerLeuArgArgAsnThrLysLysProLysProLysProArgProSerIleThrLysAlaThrTrpGluSerAsnTyrPheGlyValProLeuThrThrValValThrProGluLysProIleProIlePheIleGluArgCysIleGluTyrIleGluAlaThrGlyLeuSerThrGluGlyIleTyrArgValSerGlyAsnLysSerGluMetGluSerLeuGlnArgGlnPheAspGlnAspHisAsnLeuAspLeuAlaGluLysAspPheThrValAsnThrValAlaGlyAlaMetLysSerPhePheSerGluLeuProAspProLeuValProTyrAsnMetGlnIleAspLeuValGluAlaHisLysIleAsnAspArgGluGlnLysLeuHisAlaLeuLysGluValLeuLysLysPheProLysGluAsnHisGluValPheLysTyrValIleSerHisLeuAsnLysValSerHisAsnAsnLysValAsnLeuMetThrSerGluAsnLeuSerIleCysPheTrpProThrLeuMetArgProAspPheSerThrMetAspAlaLeuThrAlaThrArgThrTyrGlnThrIleIleGluLeuPheIleGlnGlnCysProPhePhePheTyrAsnArgProIleThrGluProProGlyAlaArgProSerSerProSerAlaValAlaSerThrValProPheLeuThrSerThrProValThrSerGlnProSerProProGlnSerProProProThrProGlnSerProMetGlnProLeuLeuProSerGlnLeuGlnAlaGluHisThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004591",
      "geneNCBI_id": 2909,
      "geneSymbol": "ARHGAP35",
      "hgvs": [
        "ENST00000615647.1:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479487.1:p.Gln534Ter",
        "hgvsWellDefined": "ENSP00000479487.1:p.Gln534_Ile749delinsLysLeuGlnAlaGluArgAspAlaLeuIleLeuLysHisIleHisPheValTyrHisProThrLysGluThrCysProSerCysProAlaCysValAspAlaLysIleGluHisLeuIleSerSerArgPheIleArgProSerAspArgAsnGlnLysAsnSerLeuSerAspProAsnIleAspArgIleAsnLeuValIleLeuGlyLysAspGlyLeuAlaArgGluLeuAlaAsnGluIleArgAlaLeuCysThrAsnAspAspLysTyrValIleAspGlyLysMetTyrGluLeuSerLeuArgProIleGluGlyAsnValArgLeuProValAsnSerPheGlnThrProThrPheGlnProHisGlyCysLeuCysLeuTyrAsnSerLysGluSerLeuSerTyrValValGluSerIleGluLysSerArgGluSerThrLeuGlyArgArgAspAsnHisLeuValHisLeuProLeuThrLeuIleLeuValAsnLysArgGlyAspThrSerGlyGluThrLeuHisSerLeuIleGlnGlnGlyGlnGlnIleAlaSerLysLeuGlnCysValPheLeuAspProAlaSerAlaGlyAlaAlaAspLeuSerTrpLeuGlyProIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580314715",
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004591",
      "geneNCBI_id": 2909,
      "geneSymbol": "ARHGAP35",
      "hgvs": [
        "NM_004491.4:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004482.4:p.Gln534Ter",
        "hgvsWellDefined": "NP_004482.4:p.Gln534_Leu1499delinsLysLeuGlnAlaGluArgAspAlaLeuIleLeuLysHisIleHisPheValTyrHisProThrLysGluThrCysProSerCysProAlaCysValAspAlaLysIleGluHisLeuIleSerSerArgPheIleArgProSerAspArgAsnGlnLysAsnSerLeuSerAspProAsnIleAspArgIleAsnLeuValIleLeuGlyLysAspGlyLeuAlaArgGluLeuAlaAsnGluIleArgAlaLeuCysThrAsnAspAspLysTyrValIleAspGlyLysMetTyrGluLeuSerLeuArgProIleGluGlyAsnValArgLeuProValAsnSerPheGlnThrProThrPheGlnProHisGlyCysLeuCysLeuTyrAsnSerLysGluSerLeuSerTyrValValGluSerIleGluLysSerArgGluSerThrLeuGlyArgArgAspAsnHisLeuValHisLeuProLeuThrLeuIleLeuValAsnLysArgGlyAspThrSerGlyGluThrLeuHisSerLeuIleGlnGlnGlyGlnGlnIleAlaSerLysLeuGlnCysValPheLeuAspProAlaSerAlaGlyIleGlyTyrGlyArgAsnIleAsnGluLysGlnIleSerGlnValLeuLysGlyLeuLeuAspSerLysArgAsnLeuAsnLeuValSerSerThrAlaSerIleLysAspLeuAlaAspValAspLeuArgIleValMetCysLeuMetCysGlyAspProPheSerAlaAspAspIleLeuPheProValLeuGlnSerGlnThrCysLysSerSerHisCysGlySerAsnAsnSerValLeuLeuGluLeuProIleGlyLeuHisLysLysArgIleGluLeuSerValLeuSerTyrHisSerSerPheSerIleArgLysSerArgLeuValHisGlyTyrIleValPheTyrSerAlaLysArgLysAlaSerLeuAlaMetLeuArgAlaPheLeuCysGluValGlnAspIleIleProIleGlnLeuValAlaLeuThrAspGlyAlaValAspValLeuAspAsnAspLeuSerArgGluGlnLeuThrGluGlyGluGluIleAlaGlnGluIleAspGlyArgPheThrSerIleProCysSerGlnProGlnHisLysLeuGluIlePheHisProPhePheLysAspValValGluLysLysAsnIleIleGluAlaThrHisMetTyrAspAsnAlaAlaGluAlaCysSerThrThrGluGluValPheAsnSerProArgAlaGlySerProLeuCysAsnSerAsnLeuGlnAspSerGluGluAspIleGluProSerTyrSerLeuPheArgGluAspThrSerLeuProSerLeuSerLysAspHisSerLysLeuSerMetGluLeuGluGlyAsnAspGlyLeuSerPheIleMetSerAsnPheGluSerLysLeuAsnAsnLysValProProProValLysProLysProProValHisPheGluIleThrLysGlyAspLeuSerTyrLeuAspGlnGlyHisArgAspGlyGlnArgLysSerValSerSerSerProTrpLeuProGlnAspGlyPheAspProSerAspTyrAlaGluProMetAspAlaValValLysProArgAsnGluGluGluAsnIleTyrSerValProHisAspSerThrGlnGlyLysIleIleThrIleArgAsnIleAsnLysAlaGlnSerAsnGlySerGlyAsnGlySerAspSerGluMetAspThrSerSerLeuGluArgGlyArgLysValSerIleValSerLysProValLeuTyrArgThrArgCysThrArgLeuGlyArgPheAlaSerTyrArgThrSerPheSerValGlySerAspAspGluLeuGlyProIleArgLysLysGluGluAspGlnAlaSerGlnGlyTyrLysGlyAspAsnAlaValIleProTyrGluThrAspGluAspProArgArgArgAsnIleLeuArgSerLeuArgArgAsnThrLysLysProLysProLysProArgProSerIleThrLysAlaThrTrpGluSerAsnTyrPheGlyValProLeuThrThrValValThrProGluLysProIleProIlePheIleGluArgCysIleGluTyrIleGluAlaThrGlyLeuSerThrGluGlyIleTyrArgValSerGlyAsnLysSerGluMetGluSerLeuGlnArgGlnPheAspGlnAspHisAsnLeuAspLeuAlaGluLysAspPheThrValAsnThrValAlaGlyAlaMetLysSerPhePheSerGluLeuProAspProLeuValProTyrAsnMetGlnIleAspLeuValGluAlaHisLysIleAsnAspArgGluGlnLysLeuHisAlaLeuLysGluValLeuLysLysPheProLysGluAsnHisGluValPheLysTyrValIleSerHisLeuAsnLysValSerHisAsnAsnLysValAsnLeuMetThrSerGluAsnLeuSerIleCysPheTrpProThrLeuMetArgProAspPheSerThrMetAspAlaLeuThrAlaThrArgThrTyrGlnThrIleIleGluLeuPheIleGlnGlnCysProPhePhePheTyrAsnArgProIleThrGluProProGlyAlaArgProSerSerProSerAlaValAlaSerThrValProPheLeuThrSerThrProValThrSerGlnProSerProProGlnSerProProProThrProGlnSerProMetGlnProLeuLeuProSerGlnLeuGlnAlaGluHisThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004591",
      "geneNCBI_id": 2909,
      "geneSymbol": "ARHGAP35",
      "hgvs": [
        "XM_011526873.1:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525175.1:p.Gln534Ter",
        "hgvsWellDefined": "XP_011525175.1:p.Gln534_Pro1415delinsLysLeuGlnAlaGluArgAspAlaLeuIleLeuLysHisIleHisPheValTyrHisProThrLysGluThrCysProSerCysProAlaCysValAspAlaLysIleGluHisLeuIleSerSerArgPheIleArgProSerAspArgAsnGlnLysAsnSerLeuSerAspProAsnIleAspArgIleAsnLeuValIleLeuGlyLysAspGlyLeuAlaArgGluLeuAlaAsnGluIleArgAlaLeuCysThrAsnAspAspLysTyrValIleAspGlyLysMetTyrGluLeuSerLeuArgProIleGluGlyAsnValArgLeuProValAsnSerPheGlnThrProThrPheGlnProHisGlyCysLeuCysLeuTyrAsnSerLysGluSerLeuSerTyrValValGluSerIleGluLysSerArgGluSerThrLeuGlyArgArgAspAsnHisLeuValHisLeuProLeuThrLeuIleLeuValAsnLysArgGlyAspThrSerGlyGluThrLeuHisSerLeuIleGlnGlnGlyGlnGlnIleAlaSerLysLeuGlnCysValPheLeuAspProAlaSerAlaGlyIleGlyTyrGlyArgAsnIleAsnGluLysGlnIleSerGlnValLeuLysGlyLeuLeuAspSerLysArgAsnLeuAsnLeuValSerSerThrAlaSerIleLysAspLeuAlaAspValAspLeuArgIleValMetCysLeuMetCysGlyAspProPheSerAlaAspAspIleLeuPheProValLeuGlnSerGlnThrCysLysSerSerHisCysGlySerAsnAsnSerValLeuLeuGluLeuProIleGlyLeuHisLysLysArgIleGluLeuSerValLeuSerTyrHisSerSerPheSerIleArgLysSerArgLeuValHisGlyTyrIleValPheTyrSerAlaLysArgLysAlaSerLeuAlaMetLeuArgAlaPheLeuCysGluValGlnAspIleIleProIleGlnLeuValAlaLeuThrAspGlyAlaValAspValLeuAspAsnAspLeuSerArgGluGlnLeuThrGluGlyGluGluIleAlaGlnGluIleAspGlyArgPheThrSerIleProCysSerGlnProGlnHisLysLeuGluIlePheHisProPhePheLysAspValValGluLysLysAsnIleIleGluAlaThrHisMetTyrAspAsnAlaAlaGluAlaCysSerThrThrGluGluValPheAsnSerProArgAlaGlySerProLeuCysAsnSerAsnLeuGlnAspSerGluGluAspIleGluProSerTyrSerLeuPheArgGluAspThrSerLeuProSerLeuSerLysAspHisSerLysLeuSerMetGluLeuGluGlyAsnAspGlyLeuSerPheIleMetSerAsnPheGluSerLysLeuAsnAsnLysValProProProValLysProLysProProValHisPheGluIleThrLysGlyAspLeuSerTyrLeuAspGlnGlyHisArgAspGlyGlnArgLysSerValSerSerSerProTrpLeuProGlnAspGlyPheAspProSerAspTyrAlaGluProMetAspAlaValValLysProArgAsnGluGluGluAsnIleTyrSerValProHisAspSerThrGlnGlyLysIleIleThrIleArgAsnIleAsnLysAlaGlnSerAsnGlySerGlyAsnGlySerAspSerGluMetAspThrSerSerLeuGluArgGlyArgLysValSerIleValSerLysProValLeuTyrArgThrArgCysThrArgLeuGlyArgPheAlaSerTyrArgThrSerPheSerValGlySerAspAspGluLeuGlyProIleArgLysLysGluGluAspGlnAlaSerGlnGlyTyrLysGlyAspAsnAlaValIleProTyrGluThrAspGluAspProArgArgArgAsnIleLeuArgSerLeuArgArgAsnThrLysLysProLysProLysProArgProSerIleThrLysAlaThrTrpGluSerAsnTyrPheGlyValProLeuThrThrValValThrProGluLysProIleProIlePheIleGluArgCysIleGluTyrIleGluAlaThrGlyLeuSerThrGluGlyIleTyrArgValSerGlyAsnLysSerGluMetGluSerLeuGlnArgGlnPheAspGlnAspHisAsnLeuAspLeuAlaGluLysAspPheThrValAsnThrValAlaGlyAlaMetLysSerPhePheSerGluLeuProAspProLeuValProTyrAsnMetGlnIleAspLeuValGluAlaHisLysIleAsnAspArgGluGlnLysLeuHisAlaLeuLysGluValLeuLysLysPheProLysGluAsnHisGluValPheLysTyrValIleSerHisLeuAsnAsnTrpGlyGluProGlyHisCysThrSerArgAspValLeuGlnGluThrAlaSerLeuArgHisGlyAlaGlnProGlnAlaGlyGlyArgMetValValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004591",
      "geneNCBI_id": 2909,
      "geneSymbol": "ARHGAP35",
      "hgvs": [
        "XR_935811.1:n.1709C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004591",
      "geneNCBI_id": 2909,
      "geneSymbol": "ARHGAP35",
      "hgvs": [
        "XM_024451473.1:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307241.1:p.Gln534Ter",
        "hgvsWellDefined": "XP_024307241.1:p.Gln534_Pro1415delinsLysLeuGlnAlaGluArgAspAlaLeuIleLeuLysHisIleHisPheValTyrHisProThrLysGluThrCysProSerCysProAlaCysValAspAlaLysIleGluHisLeuIleSerSerArgPheIleArgProSerAspArgAsnGlnLysAsnSerLeuSerAspProAsnIleAspArgIleAsnLeuValIleLeuGlyLysAspGlyLeuAlaArgGluLeuAlaAsnGluIleArgAlaLeuCysThrAsnAspAspLysTyrValIleAspGlyLysMetTyrGluLeuSerLeuArgProIleGluGlyAsnValArgLeuProValAsnSerPheGlnThrProThrPheGlnProHisGlyCysLeuCysLeuTyrAsnSerLysGluSerLeuSerTyrValValGluSerIleGluLysSerArgGluSerThrLeuGlyArgArgAspAsnHisLeuValHisLeuProLeuThrLeuIleLeuValAsnLysArgGlyAspThrSerGlyGluThrLeuHisSerLeuIleGlnGlnGlyGlnGlnIleAlaSerLysLeuGlnCysValPheLeuAspProAlaSerAlaGlyIleGlyTyrGlyArgAsnIleAsnGluLysGlnIleSerGlnValLeuLysGlyLeuLeuAspSerLysArgAsnLeuAsnLeuValSerSerThrAlaSerIleLysAspLeuAlaAspValAspLeuArgIleValMetCysLeuMetCysGlyAspProPheSerAlaAspAspIleLeuPheProValLeuGlnSerGlnThrCysLysSerSerHisCysGlySerAsnAsnSerValLeuLeuGluLeuProIleGlyLeuHisLysLysArgIleGluLeuSerValLeuSerTyrHisSerSerPheSerIleArgLysSerArgLeuValHisGlyTyrIleValPheTyrSerAlaLysArgLysAlaSerLeuAlaMetLeuArgAlaPheLeuCysGluValGlnAspIleIleProIleGlnLeuValAlaLeuThrAspGlyAlaValAspValLeuAspAsnAspLeuSerArgGluGlnLeuThrGluGlyGluGluIleAlaGlnGluIleAspGlyArgPheThrSerIleProCysSerGlnProGlnHisLysLeuGluIlePheHisProPhePheLysAspValValGluLysLysAsnIleIleGluAlaThrHisMetTyrAspAsnAlaAlaGluAlaCysSerThrThrGluGluValPheAsnSerProArgAlaGlySerProLeuCysAsnSerAsnLeuGlnAspSerGluGluAspIleGluProSerTyrSerLeuPheArgGluAspThrSerLeuProSerLeuSerLysAspHisSerLysLeuSerMetGluLeuGluGlyAsnAspGlyLeuSerPheIleMetSerAsnPheGluSerLysLeuAsnAsnLysValProProProValLysProLysProProValHisPheGluIleThrLysGlyAspLeuSerTyrLeuAspGlnGlyHisArgAspGlyGlnArgLysSerValSerSerSerProTrpLeuProGlnAspGlyPheAspProSerAspTyrAlaGluProMetAspAlaValValLysProArgAsnGluGluGluAsnIleTyrSerValProHisAspSerThrGlnGlyLysIleIleThrIleArgAsnIleAsnLysAlaGlnSerAsnGlySerGlyAsnGlySerAspSerGluMetAspThrSerSerLeuGluArgGlyArgLysValSerIleValSerLysProValLeuTyrArgThrArgCysThrArgLeuGlyArgPheAlaSerTyrArgThrSerPheSerValGlySerAspAspGluLeuGlyProIleArgLysLysGluGluAspGlnAlaSerGlnGlyTyrLysGlyAspAsnAlaValIleProTyrGluThrAspGluAspProArgArgArgAsnIleLeuArgSerLeuArgArgAsnThrLysLysProLysProLysProArgProSerIleThrLysAlaThrTrpGluSerAsnTyrPheGlyValProLeuThrThrValValThrProGluLysProIleProIlePheIleGluArgCysIleGluTyrIleGluAlaThrGlyLeuSerThrGluGlyIleTyrArgValSerGlyAsnLysSerGluMetGluSerLeuGlnArgGlnPheAspGlnAspHisAsnLeuAspLeuAlaGluLysAspPheThrValAsnThrValAlaGlyAlaMetLysSerPhePheSerGluLeuProAspProLeuValProTyrAsnMetGlnIleAspLeuValGluAlaHisLysIleAsnAspArgGluGlnLysLeuHisAlaLeuLysGluValLeuLysLysPheProLysGluAsnHisGluValPheLysTyrValIleSerHisLeuAsnAsnTrpGlyGluProGlyHisCysThrSerArgAspValLeuGlnGluThrAlaSerLeuArgHisGlyAlaGlnProGlnAlaGlyGlyArgMetValValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004591",
      "geneNCBI_id": 2909,
      "geneSymbol": "ARHGAP35",
      "hgvs": [
        "XR_002958305.1:n.1709C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580314715",
      "coordinates": [
        {
          "allele": "T",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004591",
      "geneNCBI_id": 2909,
      "geneSymbol": "ARHGAP35",
      "hgvs": [
        "NM_004491.5:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004482.4:p.Gln534Ter",
        "hgvsWellDefined": "NP_004482.4:p.Gln534_Leu1499delinsLysLeuGlnAlaGluArgAspAlaLeuIleLeuLysHisIleHisPheValTyrHisProThrLysGluThrCysProSerCysProAlaCysValAspAlaLysIleGluHisLeuIleSerSerArgPheIleArgProSerAspArgAsnGlnLysAsnSerLeuSerAspProAsnIleAspArgIleAsnLeuValIleLeuGlyLysAspGlyLeuAlaArgGluLeuAlaAsnGluIleArgAlaLeuCysThrAsnAspAspLysTyrValIleAspGlyLysMetTyrGluLeuSerLeuArgProIleGluGlyAsnValArgLeuProValAsnSerPheGlnThrProThrPheGlnProHisGlyCysLeuCysLeuTyrAsnSerLysGluSerLeuSerTyrValValGluSerIleGluLysSerArgGluSerThrLeuGlyArgArgAspAsnHisLeuValHisLeuProLeuThrLeuIleLeuValAsnLysArgGlyAspThrSerGlyGluThrLeuHisSerLeuIleGlnGlnGlyGlnGlnIleAlaSerLysLeuGlnCysValPheLeuAspProAlaSerAlaGlyIleGlyTyrGlyArgAsnIleAsnGluLysGlnIleSerGlnValLeuLysGlyLeuLeuAspSerLysArgAsnLeuAsnLeuValSerSerThrAlaSerIleLysAspLeuAlaAspValAspLeuArgIleValMetCysLeuMetCysGlyAspProPheSerAlaAspAspIleLeuPheProValLeuGlnSerGlnThrCysLysSerSerHisCysGlySerAsnAsnSerValLeuLeuGluLeuProIleGlyLeuHisLysLysArgIleGluLeuSerValLeuSerTyrHisSerSerPheSerIleArgLysSerArgLeuValHisGlyTyrIleValPheTyrSerAlaLysArgLysAlaSerLeuAlaMetLeuArgAlaPheLeuCysGluValGlnAspIleIleProIleGlnLeuValAlaLeuThrAspGlyAlaValAspValLeuAspAsnAspLeuSerArgGluGlnLeuThrGluGlyGluGluIleAlaGlnGluIleAspGlyArgPheThrSerIleProCysSerGlnProGlnHisLysLeuGluIlePheHisProPhePheLysAspValValGluLysLysAsnIleIleGluAlaThrHisMetTyrAspAsnAlaAlaGluAlaCysSerThrThrGluGluValPheAsnSerProArgAlaGlySerProLeuCysAsnSerAsnLeuGlnAspSerGluGluAspIleGluProSerTyrSerLeuPheArgGluAspThrSerLeuProSerLeuSerLysAspHisSerLysLeuSerMetGluLeuGluGlyAsnAspGlyLeuSerPheIleMetSerAsnPheGluSerLysLeuAsnAsnLysValProProProValLysProLysProProValHisPheGluIleThrLysGlyAspLeuSerTyrLeuAspGlnGlyHisArgAspGlyGlnArgLysSerValSerSerSerProTrpLeuProGlnAspGlyPheAspProSerAspTyrAlaGluProMetAspAlaValValLysProArgAsnGluGluGluAsnIleTyrSerValProHisAspSerThrGlnGlyLysIleIleThrIleArgAsnIleAsnLysAlaGlnSerAsnGlySerGlyAsnGlySerAspSerGluMetAspThrSerSerLeuGluArgGlyArgLysValSerIleValSerLysProValLeuTyrArgThrArgCysThrArgLeuGlyArgPheAlaSerTyrArgThrSerPheSerValGlySerAspAspGluLeuGlyProIleArgLysLysGluGluAspGlnAlaSerGlnGlyTyrLysGlyAspAsnAlaValIleProTyrGluThrAspGluAspProArgArgArgAsnIleLeuArgSerLeuArgArgAsnThrLysLysProLysProLysProArgProSerIleThrLysAlaThrTrpGluSerAsnTyrPheGlyValProLeuThrThrValValThrProGluLysProIleProIlePheIleGluArgCysIleGluTyrIleGluAlaThrGlyLeuSerThrGluGlyIleTyrArgValSerGlyAsnLysSerGluMetGluSerLeuGlnArgGlnPheAspGlnAspHisAsnLeuAspLeuAlaGluLysAspPheThrValAsnThrValAlaGlyAlaMetLysSerPhePheSerGluLeuProAspProLeuValProTyrAsnMetGlnIleAspLeuValGluAlaHisLysIleAsnAspArgGluGlnLysLeuHisAlaLeuLysGluValLeuLysLysPheProLysGluAsnHisGluValPheLysTyrValIleSerHisLeuAsnLysValSerHisAsnAsnLysValAsnLeuMetThrSerGluAsnLeuSerIleCysPheTrpProThrLeuMetArgProAspPheSerThrMetAspAlaLeuThrAlaThrArgThrTyrGlnThrIleIleGluLeuPheIleGlnGlnCysProPhePhePheTyrAsnArgProIleThrGluProProGlyAlaArgProSerSerProSerAlaValAlaSerThrValProPheLeuThrSerThrProValThrSerGlnProSerProProGlnSerProProProThrProGlnSerProMetGlnProLeuLeuProSerGlnLeuGlnAlaGluHisThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000672722.1:c.1600C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004491.5:c.1600C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000500409.1:p.Gln534Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004482.4:p.Gln534Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}