{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129505",
  "communityStandardTitle": [
    "NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39814[alleleid]",
        "alleleId": 39814,
        "preferredName": "NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30857",
        "RCV": [
          "RCV000023842"
        ],
        "variationId": 30857
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.119132823C>T?assembly=hg19",
        "id": "chr3:g.119132823C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.119413976C>T?assembly=hg38",
        "id": "chr3:g.119413976C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907031",
        "rs": 387907031
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-119413976-C-T?dataset=gnomad_r4",
        "id": "3-119413976-C-T",
        "variant": "3:119413976 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 119413976,
          "referenceAllele": "C",
          "start": 119413975
        }
      ],
      "hgvs": [
        "NC_000003.12:g.119413976C>T",
        "CM000665.2:g.119413976C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 119132823,
          "referenceAllele": "C",
          "start": 119132822
        }
      ],
      "hgvs": [
        "NC_000003.11:g.119132823C>T",
        "CM000665.1:g.119132823C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 120615513,
          "referenceAllele": "C",
          "start": 120615512
        }
      ],
      "hgvs": [
        "NC_000003.10:g.120615513C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124604,
          "referenceAllele": "C",
          "start": 124603
        }
      ],
      "hgvs": [
        "NG_007665.2:g.124604C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000668"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2569,
          "referenceAllele": "C",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029216",
      "geneNCBI_id": 57514,
      "geneSymbol": "ARHGAP31",
      "hgvs": [
        "ENST00000264245.9:c.2047C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264245.4:p.Gln683Ter",
        "hgvsWellDefined": "ENSP00000264245.4:p.Gln683_Glu1444delinsProIleLeuGluSerSerLeuGlyProPheIleProSerGluProProGlySerLeuProCysGlySerPheProAlaProValSerThrProLeuGluValTrpThrArgAspProAlaAsnGlnSerThrGlnGlyAlaSerThrAlaAlaSerArgGluLysProGluProGluGlnGlyLeuHisProAspLeuAlaSerLeuAlaProLeuGluIleValProPheGluLysAlaSerProGlnAlaThrValGluValGlyGlyProGlyAsnLeuSerProProLeuProProAlaProProProProThrProLeuGluGluSerThrProValLeuLeuSerLysGlyGlyProGluArgGluAspSerSerArgLysLeuArgThrAspLeuTyrIleAspGlnLeuLysSerGlnAspSerProGluIleSerSerLeuCysGlnGlyGluGluAlaThrProArgHisSerAspLysGlnAsnSerLysAsnAlaAlaSerGluGlyLysGlyCysGlyPheProSerProThrArgGluValGluIleValSerGlnGluGluGluAspValThrHisSerValGlnGluProSerAspCysAspGluAspAspThrValThrAspIleAlaGlnHisGlyLeuGluMetValGluProTrpGluGluProGlnTrpValThrSerProLeuHisSerProThrLeuLysAspAlaHisLysAlaGlnValGlnGlyLeuGlnGlyHisGlnLeuGluLysArgLeuSerHisArgProSerLeuArgGlnSerHisSerLeuAspSerLysProThrValLysSerGlnTrpThrLeuGluValProSerSerSerSerCysAlaAsnLeuGluThrGluArgAsnSerAspProLeuGlnProGlnAlaProArgArgGluIleThrGlyTrpAspGluLysAlaLeuArgSerPheArgGluPheSerGlyLeuLysGlyAlaGluAlaProProAsnGlnLysGlyProSerGlyValGlnProAsnProAlaGluThrSerProIleSerLeuAlaGluGlyLysGluLeuGlyThrHisLeuGlyHisSerSerProGlnIleArgGlnGlyGlyValProGlyProGluSerSerLysGluSerSerProSerValGlnAspSerThrSerProGlyGluHisProAlaLysLeuGlnLeuLysSerThrGluCysGlyProProLysGlyLysAsnArgProSerSerLeuAsnLeuAspProAlaIleProIleAlaAspLeuPheTrpPheGluAsnValAlaSerPheSerSerProGlyMetGlnValSerGluProGlyAspProLysValThrTrpMetThrSerSerTyrCysLysAlaAspProTrpArgValTyrSerGlnAspProGlnAspLeuAspIleValAlaHisAlaLeuThrGlyArgArgAsnSerAlaProValSerValSerAlaValArgThrSerPheMetValLysMetCysGlnAlaArgAlaValProValIleProProLysIleGlnTyrThrGlnIleProGlnProLeuProSerGlnSerSerGlyGluAsnGlyValGlnProLeuGluArgSerGlnGluGlyProSerSerThrSerGlyThrThrGlnLysProAlaLysAspAspSerProSerSerLeuGluSerSerLysGluGluLysProLysGlnAspProGlyAlaIleLysSerSerProValAspAlaThrAlaProCysMetCysGluGlyProThrLeuSerProGluProGlySerSerAsnLeuLeuSerThrGlnAspAlaValValGlnCysArgLysArgMetSerGluThrGluProSerGlyAspAsnLeuLeuSerSerLysLeuGluArgProSerGlyGlySerLysProPheHisArgSerArgProGlyArgProGlnSerLeuIleLeuPheSerProProPheProIleMetAspHisLeuProProSerSerThrValThrAspSerLysValLeuLeuSerProIleArgSerProThrGlnThrValSerProGlyLeuLeuCysGlyGluLeuAlaGluAsnThrTrpValThrProGluGlyValThrLeuArgAsnLysMetThrIleProLysAsnGlyGlnArgLeuGluThrSerThrSerCysPheTyrGlnProGlnArgArgSerValIleLeuAspGlyArgSerGlyArgGlnIleGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742644",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264245.9:c.2047C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020754.4:c.2047C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264245.4:p.Gln683Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065805.2:p.Gln683Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2579,
          "referenceAllele": "C",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029216",
      "geneNCBI_id": 57514,
      "geneSymbol": "ARHGAP31",
      "hgvs": [
        "ENST00000264245.8:c.2047C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264245.4:p.Gln683Ter",
        "hgvsWellDefined": "ENSP00000264245.4:p.Gln683_Glu1444delinsProIleLeuGluSerSerLeuGlyProPheIleProSerGluProProGlySerLeuProCysGlySerPheProAlaProValSerThrProLeuGluValTrpThrArgAspProAlaAsnGlnSerThrGlnGlyAlaSerThrAlaAlaSerArgGluLysProGluProGluGlnGlyLeuHisProAspLeuAlaSerLeuAlaProLeuGluIleValProPheGluLysAlaSerProGlnAlaThrValGluValGlyGlyProGlyAsnLeuSerProProLeuProProAlaProProProProThrProLeuGluGluSerThrProValLeuLeuSerLysGlyGlyProGluArgGluAspSerSerArgLysLeuArgThrAspLeuTyrIleAspGlnLeuLysSerGlnAspSerProGluIleSerSerLeuCysGlnGlyGluGluAlaThrProArgHisSerAspLysGlnAsnSerLysAsnAlaAlaSerGluGlyLysGlyCysGlyPheProSerProThrArgGluValGluIleValSerGlnGluGluGluAspValThrHisSerValGlnGluProSerAspCysAspGluAspAspThrValThrAspIleAlaGlnHisGlyLeuGluMetValGluProTrpGluGluProGlnTrpValThrSerProLeuHisSerProThrLeuLysAspAlaHisLysAlaGlnValGlnGlyLeuGlnGlyHisGlnLeuGluLysArgLeuSerHisArgProSerLeuArgGlnSerHisSerLeuAspSerLysProThrValLysSerGlnTrpThrLeuGluValProSerSerSerSerCysAlaAsnLeuGluThrGluArgAsnSerAspProLeuGlnProGlnAlaProArgArgGluIleThrGlyTrpAspGluLysAlaLeuArgSerPheArgGluPheSerGlyLeuLysGlyAlaGluAlaProProAsnGlnLysGlyProSerGlyValGlnProAsnProAlaGluThrSerProIleSerLeuAlaGluGlyLysGluLeuGlyThrHisLeuGlyHisSerSerProGlnIleArgGlnGlyGlyValProGlyProGluSerSerLysGluSerSerProSerValGlnAspSerThrSerProGlyGluHisProAlaLysLeuGlnLeuLysSerThrGluCysGlyProProLysGlyLysAsnArgProSerSerLeuAsnLeuAspProAlaIleProIleAlaAspLeuPheTrpPheGluAsnValAlaSerPheSerSerProGlyMetGlnValSerGluProGlyAspProLysValThrTrpMetThrSerSerTyrCysLysAlaAspProTrpArgValTyrSerGlnAspProGlnAspLeuAspIleValAlaHisAlaLeuThrGlyArgArgAsnSerAlaProValSerValSerAlaValArgThrSerPheMetValLysMetCysGlnAlaArgAlaValProValIleProProLysIleGlnTyrThrGlnIleProGlnProLeuProSerGlnSerSerGlyGluAsnGlyValGlnProLeuGluArgSerGlnGluGlyProSerSerThrSerGlyThrThrGlnLysProAlaLysAspAspSerProSerSerLeuGluSerSerLysGluGluLysProLysGlnAspProGlyAlaIleLysSerSerProValAspAlaThrAlaProCysMetCysGluGlyProThrLeuSerProGluProGlySerSerAsnLeuLeuSerThrGlnAspAlaValValGlnCysArgLysArgMetSerGluThrGluProSerGlyAspAsnLeuLeuSerSerLysLeuGluArgProSerGlyGlySerLysProPheHisArgSerArgProGlyArgProGlnSerLeuIleLeuPheSerProProPheProIleMetAspHisLeuProProSerSerThrValThrAspSerLysValLeuLeuSerProIleArgSerProThrGlnThrValSerProGlyLeuLeuCysGlyGluLeuAlaGluAsnThrTrpValThrProGluGlyValThrLeuArgAsnLysMetThrIleProLysAsnGlyGlnArgLeuGluThrSerThrSerCysPheTyrGlnProGlnArgArgSerValIleLeuAspGlyArgSerGlyArgGlnIleGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129506",
      "coordinates": [
        {
          "allele": "T",
          "end": 2579,
          "referenceAllele": "C",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029216",
      "geneNCBI_id": 57514,
      "geneSymbol": "ARHGAP31",
      "hgvs": [
        "NM_020754.3:c.2047C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065805.2:p.Gln683Ter",
        "hgvsWellDefined": "NP_065805.2:p.Gln683_Glu1444delinsProIleLeuGluSerSerLeuGlyProPheIleProSerGluProProGlySerLeuProCysGlySerPheProAlaProValSerThrProLeuGluValTrpThrArgAspProAlaAsnGlnSerThrGlnGlyAlaSerThrAlaAlaSerArgGluLysProGluProGluGlnGlyLeuHisProAspLeuAlaSerLeuAlaProLeuGluIleValProPheGluLysAlaSerProGlnAlaThrValGluValGlyGlyProGlyAsnLeuSerProProLeuProProAlaProProProProThrProLeuGluGluSerThrProValLeuLeuSerLysGlyGlyProGluArgGluAspSerSerArgLysLeuArgThrAspLeuTyrIleAspGlnLeuLysSerGlnAspSerProGluIleSerSerLeuCysGlnGlyGluGluAlaThrProArgHisSerAspLysGlnAsnSerLysAsnAlaAlaSerGluGlyLysGlyCysGlyPheProSerProThrArgGluValGluIleValSerGlnGluGluGluAspValThrHisSerValGlnGluProSerAspCysAspGluAspAspThrValThrAspIleAlaGlnHisGlyLeuGluMetValGluProTrpGluGluProGlnTrpValThrSerProLeuHisSerProThrLeuLysAspAlaHisLysAlaGlnValGlnGlyLeuGlnGlyHisGlnLeuGluLysArgLeuSerHisArgProSerLeuArgGlnSerHisSerLeuAspSerLysProThrValLysSerGlnTrpThrLeuGluValProSerSerSerSerCysAlaAsnLeuGluThrGluArgAsnSerAspProLeuGlnProGlnAlaProArgArgGluIleThrGlyTrpAspGluLysAlaLeuArgSerPheArgGluPheSerGlyLeuLysGlyAlaGluAlaProProAsnGlnLysGlyProSerGlyValGlnProAsnProAlaGluThrSerProIleSerLeuAlaGluGlyLysGluLeuGlyThrHisLeuGlyHisSerSerProGlnIleArgGlnGlyGlyValProGlyProGluSerSerLysGluSerSerProSerValGlnAspSerThrSerProGlyGluHisProAlaLysLeuGlnLeuLysSerThrGluCysGlyProProLysGlyLysAsnArgProSerSerLeuAsnLeuAspProAlaIleProIleAlaAspLeuPheTrpPheGluAsnValAlaSerPheSerSerProGlyMetGlnValSerGluProGlyAspProLysValThrTrpMetThrSerSerTyrCysLysAlaAspProTrpArgValTyrSerGlnAspProGlnAspLeuAspIleValAlaHisAlaLeuThrGlyArgArgAsnSerAlaProValSerValSerAlaValArgThrSerPheMetValLysMetCysGlnAlaArgAlaValProValIleProProLysIleGlnTyrThrGlnIleProGlnProLeuProSerGlnSerSerGlyGluAsnGlyValGlnProLeuGluArgSerGlnGluGlyProSerSerThrSerGlyThrThrGlnLysProAlaLysAspAspSerProSerSerLeuGluSerSerLysGluGluLysProLysGlnAspProGlyAlaIleLysSerSerProValAspAlaThrAlaProCysMetCysGluGlyProThrLeuSerProGluProGlySerSerAsnLeuLeuSerThrGlnAspAlaValValGlnCysArgLysArgMetSerGluThrGluProSerGlyAspAsnLeuLeuSerSerLysLeuGluArgProSerGlyGlySerLysProPheHisArgSerArgProGlyArgProGlnSerLeuIleLeuPheSerProProPheProIleMetAspHisLeuProProSerSerThrValThrAspSerLysValLeuLeuSerProIleArgSerProThrGlnThrValSerProGlyLeuLeuCysGlyGluLeuAlaGluAsnThrTrpValThrProGluGlyValThrLeuArgAsnLysMetThrIleProLysAsnGlyGlnArgLeuGluThrSerThrSerCysPheTyrGlnProGlnArgArgSerValIleLeuAspGlyArgSerGlyArgGlnIleGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1970,
          "referenceAllele": "C",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029216",
      "geneNCBI_id": 57514,
      "geneSymbol": "ARHGAP31",
      "hgvs": [
        "XM_005247671.3:c.1954C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247728.1:p.Gln652Ter",
        "hgvsWellDefined": "XP_005247728.1:p.Gln652_Glu1413delinsProIleLeuGluSerSerLeuGlyProPheIleProSerGluProProGlySerLeuProCysGlySerPheProAlaProValSerThrProLeuGluValTrpThrArgAspProAlaAsnGlnSerThrGlnGlyAlaSerThrAlaAlaSerArgGluLysProGluProGluGlnGlyLeuHisProAspLeuAlaSerLeuAlaProLeuGluIleValProPheGluLysAlaSerProGlnAlaThrValGluValGlyGlyProGlyAsnLeuSerProProLeuProProAlaProProProProThrProLeuGluGluSerThrProValLeuLeuSerLysGlyGlyProGluArgGluAspSerSerArgLysLeuArgThrAspLeuTyrIleAspGlnLeuLysSerGlnAspSerProGluIleSerSerLeuCysGlnGlyGluGluAlaThrProArgHisSerAspLysGlnAsnSerLysAsnAlaAlaSerGluGlyLysGlyCysGlyPheProSerProThrArgGluValGluIleValSerGlnGluGluGluAspValThrHisSerValGlnGluProSerAspCysAspGluAspAspThrValThrAspIleAlaGlnHisGlyLeuGluMetValGluProTrpGluGluProGlnTrpValThrSerProLeuHisSerProThrLeuLysAspAlaHisLysAlaGlnValGlnGlyLeuGlnGlyHisGlnLeuGluLysArgLeuSerHisArgProSerLeuArgGlnSerHisSerLeuAspSerLysProThrValLysSerGlnTrpThrLeuGluValProSerSerSerSerCysAlaAsnLeuGluThrGluArgAsnSerAspProLeuGlnProGlnAlaProArgArgGluIleThrGlyTrpAspGluLysAlaLeuArgSerPheArgGluPheSerGlyLeuLysGlyAlaGluAlaProProAsnGlnLysGlyProSerGlyValGlnProAsnProAlaGluThrSerProIleSerLeuAlaGluGlyLysGluLeuGlyThrHisLeuGlyHisSerSerProGlnIleArgGlnGlyGlyValProGlyProGluSerSerLysGluSerSerProSerValGlnAspSerThrSerProGlyGluHisProAlaLysLeuGlnLeuLysSerThrGluCysGlyProProLysGlyLysAsnArgProSerSerLeuAsnLeuAspProAlaIleProIleAlaAspLeuPheTrpPheGluAsnValAlaSerPheSerSerProGlyMetGlnValSerGluProGlyAspProLysValThrTrpMetThrSerSerTyrCysLysAlaAspProTrpArgValTyrSerGlnAspProGlnAspLeuAspIleValAlaHisAlaLeuThrGlyArgArgAsnSerAlaProValSerValSerAlaValArgThrSerPheMetValLysMetCysGlnAlaArgAlaValProValIleProProLysIleGlnTyrThrGlnIleProGlnProLeuProSerGlnSerSerGlyGluAsnGlyValGlnProLeuGluArgSerGlnGluGlyProSerSerThrSerGlyThrThrGlnLysProAlaLysAspAspSerProSerSerLeuGluSerSerLysGluGluLysProLysGlnAspProGlyAlaIleLysSerSerProValAspAlaThrAlaProCysMetCysGluGlyProThrLeuSerProGluProGlySerSerAsnLeuLeuSerThrGlnAspAlaValValGlnCysArgLysArgMetSerGluThrGluProSerGlyAspAsnLeuLeuSerSerLysLeuGluArgProSerGlyGlySerLysProPheHisArgSerArgProGlyArgProGlnSerLeuIleLeuPheSerProProPheProIleMetAspHisLeuProProSerSerThrValThrAspSerLysValLeuLeuSerProIleArgSerProThrGlnThrValSerProGlyLeuLeuCysGlyGluLeuAlaGluAsnThrTrpValThrProGluGlyValThrLeuArgAsnLysMetThrIleProLysAsnGlyGlnArgLeuGluThrSerThrSerCysPheTyrGlnProGlnArgArgSerValIleLeuAspGlyArgSerGlyArgGlnIleGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2603,
          "referenceAllele": "C",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029216",
      "geneNCBI_id": 57514,
      "geneSymbol": "ARHGAP31",
      "hgvs": [
        "XM_006713714.2:c.1987C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713777.1:p.Gln663Ter",
        "hgvsWellDefined": "XP_006713777.1:p.Gln663_Glu1424delinsProIleLeuGluSerSerLeuGlyProPheIleProSerGluProProGlySerLeuProCysGlySerPheProAlaProValSerThrProLeuGluValTrpThrArgAspProAlaAsnGlnSerThrGlnGlyAlaSerThrAlaAlaSerArgGluLysProGluProGluGlnGlyLeuHisProAspLeuAlaSerLeuAlaProLeuGluIleValProPheGluLysAlaSerProGlnAlaThrValGluValGlyGlyProGlyAsnLeuSerProProLeuProProAlaProProProProThrProLeuGluGluSerThrProValLeuLeuSerLysGlyGlyProGluArgGluAspSerSerArgLysLeuArgThrAspLeuTyrIleAspGlnLeuLysSerGlnAspSerProGluIleSerSerLeuCysGlnGlyGluGluAlaThrProArgHisSerAspLysGlnAsnSerLysAsnAlaAlaSerGluGlyLysGlyCysGlyPheProSerProThrArgGluValGluIleValSerGlnGluGluGluAspValThrHisSerValGlnGluProSerAspCysAspGluAspAspThrValThrAspIleAlaGlnHisGlyLeuGluMetValGluProTrpGluGluProGlnTrpValThrSerProLeuHisSerProThrLeuLysAspAlaHisLysAlaGlnValGlnGlyLeuGlnGlyHisGlnLeuGluLysArgLeuSerHisArgProSerLeuArgGlnSerHisSerLeuAspSerLysProThrValLysSerGlnTrpThrLeuGluValProSerSerSerSerCysAlaAsnLeuGluThrGluArgAsnSerAspProLeuGlnProGlnAlaProArgArgGluIleThrGlyTrpAspGluLysAlaLeuArgSerPheArgGluPheSerGlyLeuLysGlyAlaGluAlaProProAsnGlnLysGlyProSerGlyValGlnProAsnProAlaGluThrSerProIleSerLeuAlaGluGlyLysGluLeuGlyThrHisLeuGlyHisSerSerProGlnIleArgGlnGlyGlyValProGlyProGluSerSerLysGluSerSerProSerValGlnAspSerThrSerProGlyGluHisProAlaLysLeuGlnLeuLysSerThrGluCysGlyProProLysGlyLysAsnArgProSerSerLeuAsnLeuAspProAlaIleProIleAlaAspLeuPheTrpPheGluAsnValAlaSerPheSerSerProGlyMetGlnValSerGluProGlyAspProLysValThrTrpMetThrSerSerTyrCysLysAlaAspProTrpArgValTyrSerGlnAspProGlnAspLeuAspIleValAlaHisAlaLeuThrGlyArgArgAsnSerAlaProValSerValSerAlaValArgThrSerPheMetValLysMetCysGlnAlaArgAlaValProValIleProProLysIleGlnTyrThrGlnIleProGlnProLeuProSerGlnSerSerGlyGluAsnGlyValGlnProLeuGluArgSerGlnGluGlyProSerSerThrSerGlyThrThrGlnLysProAlaLysAspAspSerProSerSerLeuGluSerSerLysGluGluLysProLysGlnAspProGlyAlaIleLysSerSerProValAspAlaThrAlaProCysMetCysGluGlyProThrLeuSerProGluProGlySerSerAsnLeuLeuSerThrGlnAspAlaValValGlnCysArgLysArgMetSerGluThrGluProSerGlyAspAsnLeuLeuSerSerLysLeuGluArgProSerGlyGlySerLysProPheHisArgSerArgProGlyArgProGlnSerLeuIleLeuPheSerProProPheProIleMetAspHisLeuProProSerSerThrValThrAspSerLysValLeuLeuSerProIleArgSerProThrGlnThrValSerProGlyLeuLeuCysGlyGluLeuAlaGluAsnThrTrpValThrProGluGlyValThrLeuArgAsnLysMetThrIleProLysAsnGlyGlnArgLeuGluThrSerThrSerCysPheTyrGlnProGlnArgArgSerValIleLeuAspGlyArgSerGlyArgGlnIleGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2603,
          "referenceAllele": "C",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029216",
      "geneNCBI_id": 57514,
      "geneSymbol": "ARHGAP31",
      "hgvs": [
        "XM_006713714.3:c.1987C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713777.1:p.Gln663Ter",
        "hgvsWellDefined": "XP_006713777.1:p.Gln663_Glu1424delinsProIleLeuGluSerSerLeuGlyProPheIleProSerGluProProGlySerLeuProCysGlySerPheProAlaProValSerThrProLeuGluValTrpThrArgAspProAlaAsnGlnSerThrGlnGlyAlaSerThrAlaAlaSerArgGluLysProGluProGluGlnGlyLeuHisProAspLeuAlaSerLeuAlaProLeuGluIleValProPheGluLysAlaSerProGlnAlaThrValGluValGlyGlyProGlyAsnLeuSerProProLeuProProAlaProProProProThrProLeuGluGluSerThrProValLeuLeuSerLysGlyGlyProGluArgGluAspSerSerArgLysLeuArgThrAspLeuTyrIleAspGlnLeuLysSerGlnAspSerProGluIleSerSerLeuCysGlnGlyGluGluAlaThrProArgHisSerAspLysGlnAsnSerLysAsnAlaAlaSerGluGlyLysGlyCysGlyPheProSerProThrArgGluValGluIleValSerGlnGluGluGluAspValThrHisSerValGlnGluProSerAspCysAspGluAspAspThrValThrAspIleAlaGlnHisGlyLeuGluMetValGluProTrpGluGluProGlnTrpValThrSerProLeuHisSerProThrLeuLysAspAlaHisLysAlaGlnValGlnGlyLeuGlnGlyHisGlnLeuGluLysArgLeuSerHisArgProSerLeuArgGlnSerHisSerLeuAspSerLysProThrValLysSerGlnTrpThrLeuGluValProSerSerSerSerCysAlaAsnLeuGluThrGluArgAsnSerAspProLeuGlnProGlnAlaProArgArgGluIleThrGlyTrpAspGluLysAlaLeuArgSerPheArgGluPheSerGlyLeuLysGlyAlaGluAlaProProAsnGlnLysGlyProSerGlyValGlnProAsnProAlaGluThrSerProIleSerLeuAlaGluGlyLysGluLeuGlyThrHisLeuGlyHisSerSerProGlnIleArgGlnGlyGlyValProGlyProGluSerSerLysGluSerSerProSerValGlnAspSerThrSerProGlyGluHisProAlaLysLeuGlnLeuLysSerThrGluCysGlyProProLysGlyLysAsnArgProSerSerLeuAsnLeuAspProAlaIleProIleAlaAspLeuPheTrpPheGluAsnValAlaSerPheSerSerProGlyMetGlnValSerGluProGlyAspProLysValThrTrpMetThrSerSerTyrCysLysAlaAspProTrpArgValTyrSerGlnAspProGlnAspLeuAspIleValAlaHisAlaLeuThrGlyArgArgAsnSerAlaProValSerValSerAlaValArgThrSerPheMetValLysMetCysGlnAlaArgAlaValProValIleProProLysIleGlnTyrThrGlnIleProGlnProLeuProSerGlnSerSerGlyGluAsnGlyValGlnProLeuGluArgSerGlnGluGlyProSerSerThrSerGlyThrThrGlnLysProAlaLysAspAspSerProSerSerLeuGluSerSerLysGluGluLysProLysGlnAspProGlyAlaIleLysSerSerProValAspAlaThrAlaProCysMetCysGluGlyProThrLeuSerProGluProGlySerSerAsnLeuLeuSerThrGlnAspAlaValValGlnCysArgLysArgMetSerGluThrGluProSerGlyAspAsnLeuLeuSerSerLysLeuGluArgProSerGlyGlySerLysProPheHisArgSerArgProGlyArgProGlnSerLeuIleLeuPheSerProProPheProIleMetAspHisLeuProProSerSerThrValThrAspSerLysValLeuLeuSerProIleArgSerProThrGlnThrValSerProGlyLeuLeuCysGlyGluLeuAlaGluAsnThrTrpValThrProGluGlyValThrLeuArgAsnLysMetThrIleProLysAsnGlyGlnArgLeuGluThrSerThrSerCysPheTyrGlnProGlnArgArgSerValIleLeuAspGlyArgSerGlyArgGlnIleGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2518,
          "referenceAllele": "C",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029216",
      "geneNCBI_id": 57514,
      "geneSymbol": "ARHGAP31",
      "hgvs": [
        "XM_017006955.1:c.1555C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862444.1:p.Gln519Ter",
        "hgvsWellDefined": "XP_016862444.1:p.Gln519_Glu1280delinsProIleLeuGluSerSerLeuGlyProPheIleProSerGluProProGlySerLeuProCysGlySerPheProAlaProValSerThrProLeuGluValTrpThrArgAspProAlaAsnGlnSerThrGlnGlyAlaSerThrAlaAlaSerArgGluLysProGluProGluGlnGlyLeuHisProAspLeuAlaSerLeuAlaProLeuGluIleValProPheGluLysAlaSerProGlnAlaThrValGluValGlyGlyProGlyAsnLeuSerProProLeuProProAlaProProProProThrProLeuGluGluSerThrProValLeuLeuSerLysGlyGlyProGluArgGluAspSerSerArgLysLeuArgThrAspLeuTyrIleAspGlnLeuLysSerGlnAspSerProGluIleSerSerLeuCysGlnGlyGluGluAlaThrProArgHisSerAspLysGlnAsnSerLysAsnAlaAlaSerGluGlyLysGlyCysGlyPheProSerProThrArgGluValGluIleValSerGlnGluGluGluAspValThrHisSerValGlnGluProSerAspCysAspGluAspAspThrValThrAspIleAlaGlnHisGlyLeuGluMetValGluProTrpGluGluProGlnTrpValThrSerProLeuHisSerProThrLeuLysAspAlaHisLysAlaGlnValGlnGlyLeuGlnGlyHisGlnLeuGluLysArgLeuSerHisArgProSerLeuArgGlnSerHisSerLeuAspSerLysProThrValLysSerGlnTrpThrLeuGluValProSerSerSerSerCysAlaAsnLeuGluThrGluArgAsnSerAspProLeuGlnProGlnAlaProArgArgGluIleThrGlyTrpAspGluLysAlaLeuArgSerPheArgGluPheSerGlyLeuLysGlyAlaGluAlaProProAsnGlnLysGlyProSerGlyValGlnProAsnProAlaGluThrSerProIleSerLeuAlaGluGlyLysGluLeuGlyThrHisLeuGlyHisSerSerProGlnIleArgGlnGlyGlyValProGlyProGluSerSerLysGluSerSerProSerValGlnAspSerThrSerProGlyGluHisProAlaLysLeuGlnLeuLysSerThrGluCysGlyProProLysGlyLysAsnArgProSerSerLeuAsnLeuAspProAlaIleProIleAlaAspLeuPheTrpPheGluAsnValAlaSerPheSerSerProGlyMetGlnValSerGluProGlyAspProLysValThrTrpMetThrSerSerTyrCysLysAlaAspProTrpArgValTyrSerGlnAspProGlnAspLeuAspIleValAlaHisAlaLeuThrGlyArgArgAsnSerAlaProValSerValSerAlaValArgThrSerPheMetValLysMetCysGlnAlaArgAlaValProValIleProProLysIleGlnTyrThrGlnIleProGlnProLeuProSerGlnSerSerGlyGluAsnGlyValGlnProLeuGluArgSerGlnGluGlyProSerSerThrSerGlyThrThrGlnLysProAlaLysAspAspSerProSerSerLeuGluSerSerLysGluGluLysProLysGlnAspProGlyAlaIleLysSerSerProValAspAlaThrAlaProCysMetCysGluGlyProThrLeuSerProGluProGlySerSerAsnLeuLeuSerThrGlnAspAlaValValGlnCysArgLysArgMetSerGluThrGluProSerGlyAspAsnLeuLeuSerSerLysLeuGluArgProSerGlyGlySerLysProPheHisArgSerArgProGlyArgProGlnSerLeuIleLeuPheSerProProPheProIleMetAspHisLeuProProSerSerThrValThrAspSerLysValLeuLeuSerProIleArgSerProThrGlnThrValSerProGlyLeuLeuCysGlyGluLeuAlaGluAsnThrTrpValThrProGluGlyValThrLeuArgAsnLysMetThrIleProLysAsnGlyGlnArgLeuGluThrSerThrSerCysPheTyrGlnProGlnArgArgSerValIleLeuAspGlyArgSerGlyArgGlnIleGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129506",
      "coordinates": [
        {
          "allele": "T",
          "end": 2569,
          "referenceAllele": "C",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029216",
      "geneNCBI_id": 57514,
      "geneSymbol": "ARHGAP31",
      "hgvs": [
        "NM_020754.4:c.2047C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065805.2:p.Gln683Ter",
        "hgvsWellDefined": "NP_065805.2:p.Gln683_Glu1444delinsProIleLeuGluSerSerLeuGlyProPheIleProSerGluProProGlySerLeuProCysGlySerPheProAlaProValSerThrProLeuGluValTrpThrArgAspProAlaAsnGlnSerThrGlnGlyAlaSerThrAlaAlaSerArgGluLysProGluProGluGlnGlyLeuHisProAspLeuAlaSerLeuAlaProLeuGluIleValProPheGluLysAlaSerProGlnAlaThrValGluValGlyGlyProGlyAsnLeuSerProProLeuProProAlaProProProProThrProLeuGluGluSerThrProValLeuLeuSerLysGlyGlyProGluArgGluAspSerSerArgLysLeuArgThrAspLeuTyrIleAspGlnLeuLysSerGlnAspSerProGluIleSerSerLeuCysGlnGlyGluGluAlaThrProArgHisSerAspLysGlnAsnSerLysAsnAlaAlaSerGluGlyLysGlyCysGlyPheProSerProThrArgGluValGluIleValSerGlnGluGluGluAspValThrHisSerValGlnGluProSerAspCysAspGluAspAspThrValThrAspIleAlaGlnHisGlyLeuGluMetValGluProTrpGluGluProGlnTrpValThrSerProLeuHisSerProThrLeuLysAspAlaHisLysAlaGlnValGlnGlyLeuGlnGlyHisGlnLeuGluLysArgLeuSerHisArgProSerLeuArgGlnSerHisSerLeuAspSerLysProThrValLysSerGlnTrpThrLeuGluValProSerSerSerSerCysAlaAsnLeuGluThrGluArgAsnSerAspProLeuGlnProGlnAlaProArgArgGluIleThrGlyTrpAspGluLysAlaLeuArgSerPheArgGluPheSerGlyLeuLysGlyAlaGluAlaProProAsnGlnLysGlyProSerGlyValGlnProAsnProAlaGluThrSerProIleSerLeuAlaGluGlyLysGluLeuGlyThrHisLeuGlyHisSerSerProGlnIleArgGlnGlyGlyValProGlyProGluSerSerLysGluSerSerProSerValGlnAspSerThrSerProGlyGluHisProAlaLysLeuGlnLeuLysSerThrGluCysGlyProProLysGlyLysAsnArgProSerSerLeuAsnLeuAspProAlaIleProIleAlaAspLeuPheTrpPheGluAsnValAlaSerPheSerSerProGlyMetGlnValSerGluProGlyAspProLysValThrTrpMetThrSerSerTyrCysLysAlaAspProTrpArgValTyrSerGlnAspProGlnAspLeuAspIleValAlaHisAlaLeuThrGlyArgArgAsnSerAlaProValSerValSerAlaValArgThrSerPheMetValLysMetCysGlnAlaArgAlaValProValIleProProLysIleGlnTyrThrGlnIleProGlnProLeuProSerGlnSerSerGlyGluAsnGlyValGlnProLeuGluArgSerGlnGluGlyProSerSerThrSerGlyThrThrGlnLysProAlaLysAspAspSerProSerSerLeuGluSerSerLysGluGluLysProLysGlnAspProGlyAlaIleLysSerSerProValAspAlaThrAlaProCysMetCysGluGlyProThrLeuSerProGluProGlySerSerAsnLeuLeuSerThrGlnAspAlaValValGlnCysArgLysArgMetSerGluThrGluProSerGlyAspAsnLeuLeuSerSerLysLeuGluArgProSerGlyGlySerLysProPheHisArgSerArgProGlyArgProGlnSerLeuIleLeuPheSerProProPheProIleMetAspHisLeuProProSerSerThrValThrAspSerLysValLeuLeuSerProIleArgSerProThrGlnThrValSerProGlyLeuLeuCysGlyGluLeuAlaGluAsnThrTrpValThrProGluGlyValThrLeuArgAsnLysMetThrIleProLysAsnGlyGlnArgLeuGluThrSerThrSerCysPheTyrGlnProGlnArgArgSerValIleLeuAspGlyArgSerGlyArgGlnIleGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264245.9:c.2047C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020754.4:c.2047C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264245.4:p.Gln683Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065805.2:p.Gln683Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}