{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357379428",
  "communityStandardTitle": [
    "NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=904985[alleleid]",
        "alleleId": 904985,
        "preferredName": "NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/916661",
        "RCV": [
          "RCV001172431"
        ],
        "variationId": 916661
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.79428724G>T?assembly=hg19",
        "id": "chr4:g.79428724G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.78507570G>T?assembly=hg38",
        "id": "chr4:g.78507570G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1227013948",
        "rs": 1227013948
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 78507570,
          "referenceAllele": "G",
          "start": 78507569
        }
      ],
      "hgvs": [
        "NC_000004.12:g.78507570G>T",
        "CM000666.2:g.78507570G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 79428724,
          "referenceAllele": "G",
          "start": 79428723
        }
      ],
      "hgvs": [
        "NC_000004.11:g.79428724G>T",
        "CM000666.1:g.79428724G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 79647748,
          "referenceAllele": "G",
          "start": 79647747
        }
      ],
      "hgvs": [
        "NC_000004.10:g.79647748G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455001,
          "referenceAllele": "G",
          "start": 455000
        }
      ],
      "hgvs": [
        "NG_015812.1:g.455001G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455001,
          "referenceAllele": "G",
          "start": 455000
        }
      ],
      "hgvs": [
        "NG_015812.2:g.455001G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673642"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10153,
          "referenceAllele": "G",
          "start": 10152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000682513.1:c.9466G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508201.1:p.Glu3156Ter",
        "hgvsWellDefined": "ENSP00000508201.1:p.Glu3156_Asp3349delinsAlaAlaGlySerLeuIleLeuProAlaProProIleValValThrLeuAlaAspTyrAspHisValGluGluValThrLysGluGlyValLysLysSerProSerProGlyTyrProLeuValCysValThrProCysAspProHisPheProArgTyrAlaValMetLysGluArgCysSerGluAlaGlyIleAsnGlnThrSerValGlnPheSerTrpGluValAlaAlaProThrAspGlyAsnGlyAlaArgSerProPheGluThrIleThrAspAsnThrProPheThrSerValAsnHisMetValLeuAspSerIleTyrPheSerArgArgPheHisValArgCysValAlaLysAlaValAspLysValGlyHisValGlyThrProLeuArgSerAsnIleValThrIleGlyThrAspSerAlaIleCysHisThrProValValAlaGlyThrSerArgGlyPheGlnAlaGlnSerPheIleAlaThrLeuLysTyrLeuAspValLysHisLysGluHisProAsnArgSerGlyArgTrpCysLeuProProHisIleAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10153,
          "referenceAllele": "G",
          "start": 10152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.4:c.9466G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:p.Glu3156Ter",
        "hgvsWellDefined": "ENSP00000422834.2:p.Glu3156_Val4012delinsAlaAlaGlySerLeuIleLeuProAlaProProIleValValThrLeuAlaAspTyrAspHisValGluGluValThrLysGluGlyValLysLysSerProSerProGlyTyrProLeuValCysValThrProCysAspProHisPheProArgTyrAlaValMetLysGluArgCysSerGluAlaGlyIleAsnGlnThrSerValGlnPheSerTrpGluValAlaAlaProThrAspGlyAsnGlyAlaArgSerProPheGluThrIleThrAspAsnThrProPheThrSerValAsnHisMetValLeuAspSerIleTyrPheSerArgArgPheHisValArgCysValAlaLysAlaValAspLysValGlyHisValGlyThrProLeuArgSerAsnIleValThrIleGlyThrAspSerAlaIleCysHisThrProValValAlaGlyThrSerArgGlyPheGlnAlaGlnSerPheIleAlaThrLeuLysTyrLeuAspValLysHisLysGluHisProAsnArgIleHisIleSerValGlnIleProHisGlnAspGlyMetLeuProLeuIleSerThrMetProLeuHisAsnLeuHisPheLeuLeuSerGluSerIleTyrArgHisGlnHisValCysSerAsnLeuValThrThrTyrAspLeuArgGlyIleSerGluAlaGlyPheLeuAspAspValValTyrAspSerThrAlaLeuGlyProGlyTyrAspArgProPheGlnPheAspProSerValArgGluProLysThrIleGlnLeuTyrLysHisLeuAsnLeuLysSerCysValTrpThrPheAspAlaTyrTyrAspMetThrGluLeuIleAspValCysGlyGlySerValThrAlaAspPheGlnValArgAspSerAlaGlnSerPheLeuThrValHisValProLeuTyrValSerTyrIleTyrValThrAlaProArgGlyTrpAlaSerLeuGluHisHisThrGluMetGluPheSerPhePheTyrAspThrValLeuTrpArgThrGlyIleGlnThrAspSerValLeuSerAlaArgLeuGlnIleIleArgIleTyrIleArgGluAspGlyArgLeuValIleGluPheLysThrHisAlaLysPheArgGlyGlnPheValMetGluHisHisThrLeuProGluValLysSerPheValLeuThrProAspHisLeuGlyGlyIleGluPheAspLeuGlnLeuLeuTrpSerAlaGlnThrPheAspSerProHisGlnLeuTrpArgAlaThrSerSerTyrAsnArgLysAspTyrSerGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758265",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.9466G>T"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.9466G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Glu3156Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Glu3156Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9906,
          "referenceAllele": "G",
          "start": 9905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.3:c.9466G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:p.Glu3156Ter",
        "hgvsWellDefined": "ENSP00000422834.2:p.Glu3156_Val4012delinsAlaAlaGlySerLeuIleLeuProAlaProProIleValValThrLeuAlaAspTyrAspHisValGluGluValThrLysGluGlyValLysLysSerProSerProGlyTyrProLeuValCysValThrProCysAspProHisPheProArgTyrAlaValMetLysGluArgCysSerGluAlaGlyIleAsnGlnThrSerValGlnPheSerTrpGluValAlaAlaProThrAspGlyAsnGlyAlaArgSerProPheGluThrIleThrAspAsnThrProPheThrSerValAsnHisMetValLeuAspSerIleTyrPheSerArgArgPheHisValArgCysValAlaLysAlaValAspLysValGlyHisValGlyThrProLeuArgSerAsnIleValThrIleGlyThrAspSerAlaIleCysHisThrProValValAlaGlyThrSerArgGlyPheGlnAlaGlnSerPheIleAlaThrLeuLysTyrLeuAspValLysHisLysGluHisProAsnArgIleHisIleSerValGlnIleProHisGlnAspGlyMetLeuProLeuIleSerThrMetProLeuHisAsnLeuHisPheLeuLeuSerGluSerIleTyrArgHisGlnHisValCysSerAsnLeuValThrThrTyrAspLeuArgGlyIleSerGluAlaGlyPheLeuAspAspValValTyrAspSerThrAlaLeuGlyProGlyTyrAspArgProPheGlnPheAspProSerValArgGluProLysThrIleGlnLeuTyrLysHisLeuAsnLeuLysSerCysValTrpThrPheAspAlaTyrTyrAspMetThrGluLeuIleAspValCysGlyGlySerValThrAlaAspPheGlnValArgAspSerAlaGlnSerPheLeuThrValHisValProLeuTyrValSerTyrIleTyrValThrAlaProArgGlyTrpAlaSerLeuGluHisHisThrGluMetGluPheSerPhePheTyrAspThrValLeuTrpArgThrGlyIleGlnThrAspSerValLeuSerAlaArgLeuGlnIleIleArgIleTyrIleArgGluAspGlyArgLeuValIleGluPheLysThrHisAlaLysPheArgGlyGlnPheValMetGluHisHisThrLeuProGluValLysSerPheValLeuThrProAspHisLeuGlyGlyIleGluPheAspLeuGlnLeuLeuTrpSerAlaGlnThrPheAspSerProHisGlnLeuTrpArgAlaThrSerSerTyrAsnArgLysAspTyrSerGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342228"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139753351",
      "coordinates": [
        {
          "allele": "T",
          "end": 9906,
          "referenceAllele": "G",
          "start": 9905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.6:c.9466G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Glu3156Ter",
        "hgvsWellDefined": "NP_079350.5:p.Glu3156_Val4012delinsAlaAlaGlySerLeuIleLeuProAlaProProIleValValThrLeuAlaAspTyrAspHisValGluGluValThrLysGluGlyValLysLysSerProSerProGlyTyrProLeuValCysValThrProCysAspProHisPheProArgTyrAlaValMetLysGluArgCysSerGluAlaGlyIleAsnGlnThrSerValGlnPheSerTrpGluValAlaAlaProThrAspGlyAsnGlyAlaArgSerProPheGluThrIleThrAspAsnThrProPheThrSerValAsnHisMetValLeuAspSerIleTyrPheSerArgArgPheHisValArgCysValAlaLysAlaValAspLysValGlyHisValGlyThrProLeuArgSerAsnIleValThrIleGlyThrAspSerAlaIleCysHisThrProValValAlaGlyThrSerArgGlyPheGlnAlaGlnSerPheIleAlaThrLeuLysTyrLeuAspValLysHisLysGluHisProAsnArgIleHisIleSerValGlnIleProHisGlnAspGlyMetLeuProLeuIleSerThrMetProLeuHisAsnLeuHisPheLeuLeuSerGluSerIleTyrArgHisGlnHisValCysSerAsnLeuValThrThrTyrAspLeuArgGlyIleSerGluAlaGlyPheLeuAspAspValValTyrAspSerThrAlaLeuGlyProGlyTyrAspArgProPheGlnPheAspProSerValArgGluProLysThrIleGlnLeuTyrLysHisLeuAsnLeuLysSerCysValTrpThrPheAspAlaTyrTyrAspMetThrGluLeuIleAspValCysGlyGlySerValThrAlaAspPheGlnValArgAspSerAlaGlnSerPheLeuThrValHisValProLeuTyrValSerTyrIleTyrValThrAlaProArgGlyTrpAlaSerLeuGluHisHisThrGluMetGluPheSerPhePheTyrAspThrValLeuTrpArgThrGlyIleGlnThrAspSerValLeuSerAlaArgLeuGlnIleIleArgIleTyrIleArgGluAspGlyArgLeuValIleGluPheLysThrHisAlaLysPheArgGlyGlnPheValMetGluHisHisThrLeuProGluValLysSerPheValLeuThrProAspHisLeuGlyGlyIleGluPheAspLeuGlnLeuLeuTrpSerAlaGlnThrPheAspSerProHisGlnLeuTrpArgAlaThrSerSerTyrAsnArgLysAspTyrSerGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10502,
          "referenceAllele": "G",
          "start": 10501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714314.1:c.9460G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714377.1:p.Glu3154Ter",
        "hgvsWellDefined": "XP_006714377.1:p.Glu3154_Val4010delinsAlaAlaGlySerLeuIleLeuProAlaProProIleValValThrLeuAlaAspTyrAspHisValGluGluValThrLysGluGlyValLysLysSerProSerProGlyTyrProLeuValCysValThrProCysAspProHisPheProArgTyrAlaValMetLysGluArgCysSerGluAlaGlyIleAsnGlnThrSerValGlnPheSerTrpGluValAlaAlaProThrAspGlyAsnGlyAlaArgSerProPheGluThrIleThrAspAsnThrProPheThrSerValAsnHisMetValLeuAspSerIleTyrPheSerArgArgPheHisValArgCysValAlaLysAlaValAspLysValGlyHisValGlyThrProLeuArgSerAsnIleValThrIleGlyThrAspSerAlaIleCysHisThrProValValAlaGlyThrSerArgGlyPheGlnAlaGlnSerPheIleAlaThrLeuLysTyrLeuAspValLysHisLysGluHisProAsnArgIleHisIleSerValGlnIleProHisGlnAspGlyMetLeuProLeuIleSerThrMetProLeuHisAsnLeuHisPheLeuLeuSerGluSerIleTyrArgHisGlnHisValCysSerAsnLeuValThrThrTyrAspLeuArgGlyIleSerGluAlaGlyPheLeuAspAspValValTyrAspSerThrAlaLeuGlyProGlyTyrAspArgProPheGlnPheAspProSerValArgGluProLysThrIleGlnLeuTyrLysHisLeuAsnLeuLysSerCysValTrpThrPheAspAlaTyrTyrAspMetThrGluLeuIleAspValCysGlyGlySerValThrAlaAspPheGlnValArgAspSerAlaGlnSerPheLeuThrValHisValProLeuTyrValSerTyrIleTyrValThrAlaProArgGlyTrpAlaSerLeuGluHisHisThrGluMetGluPheSerPhePheTyrAspThrValLeuTrpArgThrGlyIleGlnThrAspSerValLeuSerAlaArgLeuGlnIleIleArgIleTyrIleArgGluAspGlyArgLeuValIleGluPheLysThrHisAlaLysPheArgGlyGlnPheValMetGluHisHisThrLeuProGluValLysSerPheValLeuThrProAspHisLeuGlyGlyIleGluPheAspLeuGlnLeuLeuTrpSerAlaGlnThrPheAspSerProHisGlnLeuTrpArgAlaThrSerSerTyrAsnArgLysAspTyrSerGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10280,
          "referenceAllele": "G",
          "start": 10279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.1:c.9238G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:p.Glu3080Ter",
        "hgvsWellDefined": "XP_006714379.1:p.Glu3080_Val3936delinsAlaAlaGlySerLeuIleLeuProAlaProProIleValValThrLeuAlaAspTyrAspHisValGluGluValThrLysGluGlyValLysLysSerProSerProGlyTyrProLeuValCysValThrProCysAspProHisPheProArgTyrAlaValMetLysGluArgCysSerGluAlaGlyIleAsnGlnThrSerValGlnPheSerTrpGluValAlaAlaProThrAspGlyAsnGlyAlaArgSerProPheGluThrIleThrAspAsnThrProPheThrSerValAsnHisMetValLeuAspSerIleTyrPheSerArgArgPheHisValArgCysValAlaLysAlaValAspLysValGlyHisValGlyThrProLeuArgSerAsnIleValThrIleGlyThrAspSerAlaIleCysHisThrProValValAlaGlyThrSerArgGlyPheGlnAlaGlnSerPheIleAlaThrLeuLysTyrLeuAspValLysHisLysGluHisProAsnArgIleHisIleSerValGlnIleProHisGlnAspGlyMetLeuProLeuIleSerThrMetProLeuHisAsnLeuHisPheLeuLeuSerGluSerIleTyrArgHisGlnHisValCysSerAsnLeuValThrThrTyrAspLeuArgGlyIleSerGluAlaGlyPheLeuAspAspValValTyrAspSerThrAlaLeuGlyProGlyTyrAspArgProPheGlnPheAspProSerValArgGluProLysThrIleGlnLeuTyrLysHisLeuAsnLeuLysSerCysValTrpThrPheAspAlaTyrTyrAspMetThrGluLeuIleAspValCysGlyGlySerValThrAlaAspPheGlnValArgAspSerAlaGlnSerPheLeuThrValHisValProLeuTyrValSerTyrIleTyrValThrAlaProArgGlyTrpAlaSerLeuGluHisHisThrGluMetGluPheSerPhePheTyrAspThrValLeuTrpArgThrGlyIleGlnThrAspSerValLeuSerAlaArgLeuGlnIleIleArgIleTyrIleArgGluAspGlyArgLeuValIleGluPheLysThrHisAlaLysPheArgGlyGlnPheValMetGluHisHisThrLeuProGluValLysSerPheValLeuThrProAspHisLeuGlyGlyIleGluPheAspLeuGlnLeuLeuTrpSerAlaGlnThrPheAspSerProHisGlnLeuTrpArgAlaThrSerSerTyrAsnArgLysAspTyrSerGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7192,
          "referenceAllele": "G",
          "start": 7191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_011532270.1:c.7165G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530572.1:p.Glu2389Ter",
        "hgvsWellDefined": "XP_011530572.1:p.Glu2389_Val3245delinsAlaAlaGlySerLeuIleLeuProAlaProProIleValValThrLeuAlaAspTyrAspHisValGluGluValThrLysGluGlyValLysLysSerProSerProGlyTyrProLeuValCysValThrProCysAspProHisPheProArgTyrAlaValMetLysGluArgCysSerGluAlaGlyIleAsnGlnThrSerValGlnPheSerTrpGluValAlaAlaProThrAspGlyAsnGlyAlaArgSerProPheGluThrIleThrAspAsnThrProPheThrSerValAsnHisMetValLeuAspSerIleTyrPheSerArgArgPheHisValArgCysValAlaLysAlaValAspLysValGlyHisValGlyThrProLeuArgSerAsnIleValThrIleGlyThrAspSerAlaIleCysHisThrProValValAlaGlyThrSerArgGlyPheGlnAlaGlnSerPheIleAlaThrLeuLysTyrLeuAspValLysHisLysGluHisProAsnArgIleHisIleSerValGlnIleProHisGlnAspGlyMetLeuProLeuIleSerThrMetProLeuHisAsnLeuHisPheLeuLeuSerGluSerIleTyrArgHisGlnHisValCysSerAsnLeuValThrThrTyrAspLeuArgGlyIleSerGluAlaGlyPheLeuAspAspValValTyrAspSerThrAlaLeuGlyProGlyTyrAspArgProPheGlnPheAspProSerValArgGluProLysThrIleGlnLeuTyrLysHisLeuAsnLeuLysSerCysValTrpThrPheAspAlaTyrTyrAspMetThrGluLeuIleAspValCysGlyGlySerValThrAlaAspPheGlnValArgAspSerAlaGlnSerPheLeuThrValHisValProLeuTyrValSerTyrIleTyrValThrAlaProArgGlyTrpAlaSerLeuGluHisHisThrGluMetGluPheSerPhePheTyrAspThrValLeuTrpArgThrGlyIleGlnThrAspSerValLeuSerAlaArgLeuGlnIleIleArgIleTyrIleArgGluAspGlyArgLeuValIleGluPheLysThrHisAlaLysPheArgGlyGlnPheValMetGluHisHisThrLeuProGluValLysSerPheValLeuThrProAspHisLeuGlyGlyIleGluPheAspLeuGlnLeuLeuTrpSerAlaGlnThrPheAspSerProHisGlnLeuTrpArgAlaThrSerSerTyrAsnArgLysAspTyrSerGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4473,
          "referenceAllele": "G",
          "start": 4472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_011532271.1:c.4354G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530573.1:p.Glu1452Ter",
        "hgvsWellDefined": "XP_011530573.1:p.Glu1452_Val2308delinsAlaAlaGlySerLeuIleLeuProAlaProProIleValValThrLeuAlaAspTyrAspHisValGluGluValThrLysGluGlyValLysLysSerProSerProGlyTyrProLeuValCysValThrProCysAspProHisPheProArgTyrAlaValMetLysGluArgCysSerGluAlaGlyIleAsnGlnThrSerValGlnPheSerTrpGluValAlaAlaProThrAspGlyAsnGlyAlaArgSerProPheGluThrIleThrAspAsnThrProPheThrSerValAsnHisMetValLeuAspSerIleTyrPheSerArgArgPheHisValArgCysValAlaLysAlaValAspLysValGlyHisValGlyThrProLeuArgSerAsnIleValThrIleGlyThrAspSerAlaIleCysHisThrProValValAlaGlyThrSerArgGlyPheGlnAlaGlnSerPheIleAlaThrLeuLysTyrLeuAspValLysHisLysGluHisProAsnArgIleHisIleSerValGlnIleProHisGlnAspGlyMetLeuProLeuIleSerThrMetProLeuHisAsnLeuHisPheLeuLeuSerGluSerIleTyrArgHisGlnHisValCysSerAsnLeuValThrThrTyrAspLeuArgGlyIleSerGluAlaGlyPheLeuAspAspValValTyrAspSerThrAlaLeuGlyProGlyTyrAspArgProPheGlnPheAspProSerValArgGluProLysThrIleGlnLeuTyrLysHisLeuAsnLeuLysSerCysValTrpThrPheAspAlaTyrTyrAspMetThrGluLeuIleAspValCysGlyGlySerValThrAlaAspPheGlnValArgAspSerAlaGlnSerPheLeuThrValHisValProLeuTyrValSerTyrIleTyrValThrAlaProArgGlyTrpAlaSerLeuGluHisHisThrGluMetGluPheSerPhePheTyrAspThrValLeuTrpArgThrGlyIleGlnThrAspSerValLeuSerAlaArgLeuGlnIleIleArgIleTyrIleArgGluAspGlyArgLeuValIleGluPheLysThrHisAlaLysPheArgGlyGlnPheValMetGluHisHisThrLeuProGluValLysSerPheValLeuThrProAspHisLeuGlyGlyIleGluPheAspLeuGlnLeuLeuTrpSerAlaGlnThrPheAspSerProHisGlnLeuTrpArgAlaThrSerSerTyrAsnArgLysAspTyrSerGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10280,
          "referenceAllele": "G",
          "start": 10279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "XM_006714316.3:c.9238G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714379.1:p.Glu3080Ter",
        "hgvsWellDefined": "XP_006714379.1:p.Glu3080_Val3936delinsAlaAlaGlySerLeuIleLeuProAlaProProIleValValThrLeuAlaAspTyrAspHisValGluGluValThrLysGluGlyValLysLysSerProSerProGlyTyrProLeuValCysValThrProCysAspProHisPheProArgTyrAlaValMetLysGluArgCysSerGluAlaGlyIleAsnGlnThrSerValGlnPheSerTrpGluValAlaAlaProThrAspGlyAsnGlyAlaArgSerProPheGluThrIleThrAspAsnThrProPheThrSerValAsnHisMetValLeuAspSerIleTyrPheSerArgArgPheHisValArgCysValAlaLysAlaValAspLysValGlyHisValGlyThrProLeuArgSerAsnIleValThrIleGlyThrAspSerAlaIleCysHisThrProValValAlaGlyThrSerArgGlyPheGlnAlaGlnSerPheIleAlaThrLeuLysTyrLeuAspValLysHisLysGluHisProAsnArgIleHisIleSerValGlnIleProHisGlnAspGlyMetLeuProLeuIleSerThrMetProLeuHisAsnLeuHisPheLeuLeuSerGluSerIleTyrArgHisGlnHisValCysSerAsnLeuValThrThrTyrAspLeuArgGlyIleSerGluAlaGlyPheLeuAspAspValValTyrAspSerThrAlaLeuGlyProGlyTyrAspArgProPheGlnPheAspProSerValArgGluProLysThrIleGlnLeuTyrLysHisLeuAsnLeuLysSerCysValTrpThrPheAspAlaTyrTyrAspMetThrGluLeuIleAspValCysGlyGlySerValThrAlaAspPheGlnValArgAspSerAlaGlnSerPheLeuThrValHisValProLeuTyrValSerTyrIleTyrValThrAlaProArgGlyTrpAlaSerLeuGluHisHisThrGluMetGluPheSerPhePheTyrAspThrValLeuTrpArgThrGlyIleGlnThrAspSerValLeuSerAlaArgLeuGlnIleIleArgIleTyrIleArgGluAspGlyArgLeuValIleGluPheLysThrHisAlaLysPheArgGlyGlnPheValMetGluHisHisThrLeuProGluValLysSerPheValLeuThrProAspHisLeuGlyGlyIleGluPheAspLeuGlnLeuLeuTrpSerAlaGlnThrPheAspSerProHisGlnLeuTrpArgAlaThrSerSerTyrAsnArgLysAspTyrSerGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139753351",
      "coordinates": [
        {
          "allele": "T",
          "end": 10153,
          "referenceAllele": "G",
          "start": 10152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.7:c.9466G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Glu3156Ter",
        "hgvsWellDefined": "NP_079350.5:p.Glu3156_Val4012delinsAlaAlaGlySerLeuIleLeuProAlaProProIleValValThrLeuAlaAspTyrAspHisValGluGluValThrLysGluGlyValLysLysSerProSerProGlyTyrProLeuValCysValThrProCysAspProHisPheProArgTyrAlaValMetLysGluArgCysSerGluAlaGlyIleAsnGlnThrSerValGlnPheSerTrpGluValAlaAlaProThrAspGlyAsnGlyAlaArgSerProPheGluThrIleThrAspAsnThrProPheThrSerValAsnHisMetValLeuAspSerIleTyrPheSerArgArgPheHisValArgCysValAlaLysAlaValAspLysValGlyHisValGlyThrProLeuArgSerAsnIleValThrIleGlyThrAspSerAlaIleCysHisThrProValValAlaGlyThrSerArgGlyPheGlnAlaGlnSerPheIleAlaThrLeuLysTyrLeuAspValLysHisLysGluHisProAsnArgIleHisIleSerValGlnIleProHisGlnAspGlyMetLeuProLeuIleSerThrMetProLeuHisAsnLeuHisPheLeuLeuSerGluSerIleTyrArgHisGlnHisValCysSerAsnLeuValThrThrTyrAspLeuArgGlyIleSerGluAlaGlyPheLeuAspAspValValTyrAspSerThrAlaLeuGlyProGlyTyrAspArgProPheGlnPheAspProSerValArgGluProLysThrIleGlnLeuTyrLysHisLeuAsnLeuLysSerCysValTrpThrPheAspAlaTyrTyrAspMetThrGluLeuIleAspValCysGlyGlySerValThrAlaAspPheGlnValArgAspSerAlaGlnSerPheLeuThrValHisValProLeuTyrValSerTyrIleTyrValThrAlaProArgGlyTrpAlaSerLeuGluHisHisThrGluMetGluPheSerPhePheTyrAspThrValLeuTrpArgThrGlyIleGlnThrAspSerValLeuSerAlaArgLeuGlnIleIleArgIleTyrIleArgGluAspGlyArgLeuValIleGluPheLysThrHisAlaLysPheArgGlyGlnPheValMetGluHisHisThrLeuProGluValLysSerPheValLeuThrProAspHisLeuGlyGlyIleGluPheAspLeuGlnLeuLeuTrpSerAlaGlnThrPheAspSerProHisGlnLeuTrpArgAlaThrSerSerTyrAsnArgLysAspTyrSerGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670885",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.9466G>T"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.9466G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Glu3156Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Glu3156Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}