{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA99980617",
  "communityStandardTitle": [
    "NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=622047[alleleid]",
        "alleleId": 622047,
        "preferredName": "NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/633615",
        "RCV": [
          "RCV000782142",
          "RCV003320744"
        ],
        "variationId": 633615
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.79447706C>G?assembly=hg19",
        "id": "chr4:g.79447706C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.78526552C>G?assembly=hg38",
        "id": "chr4:g.78526552C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1006839535",
        "rs": 1006839535
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 78526552,
          "referenceAllele": "C",
          "start": 78526551
        }
      ],
      "hgvs": [
        "NC_000004.12:g.78526552C>G",
        "CM000666.2:g.78526552C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 79447706,
          "referenceAllele": "C",
          "start": 79447705
        }
      ],
      "hgvs": [
        "NC_000004.11:g.79447706C>G",
        "CM000666.1:g.79447706C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 79666730,
          "referenceAllele": "C",
          "start": 79666729
        }
      ],
      "hgvs": [
        "NC_000004.10:g.79666730C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 473983,
          "referenceAllele": "C",
          "start": 473982
        }
      ],
      "hgvs": [
        "NG_015812.1:g.473983C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002844"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 473983,
          "referenceAllele": "C",
          "start": 473982
        }
      ],
      "hgvs": [
        "NG_015812.2:g.473983C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673642"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 11506
        }
      ],
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      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "ENST00000512123.4:c.10820C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422834.2:p.Ser3607Ter",
        "hgvsWellDefined": "ENSP00000422834.2:p.Ser3607_Val4012delinsGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758265",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.10820C>G"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.10820C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Ser3607Ter"
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          "RefSeq": {
            "hgvs": "NP_079350.5:p.Ser3607Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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      ],
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      "geneNCBI_id": 80144,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342228"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913199915",
      "coordinates": [
        {
          "allele": "G",
          "end": 11260,
          "referenceAllele": "C",
          "start": 11259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
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      "hgvs": [
        "NM_025074.6:c.10820C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Ser3607Ter",
        "hgvsWellDefined": "NP_079350.5:p.Ser3607_Val4012delinsGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11856,
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          "start": 11855
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      ],
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      "geneNCBI_id": 80144,
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      "hgvs": [
        "XM_006714314.1:c.10814C>G"
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      "proteinEffect": {
        "hgvs": "XP_006714377.1:p.Ser3605Ter",
        "hgvsWellDefined": "XP_006714377.1:p.Ser3605_Val4010delinsGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070595"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11634,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_006714379.1:p.Ser3531_Val3936delinsGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8546,
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011530572.1:p.Ser2840_Val3245delinsGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5827,
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011530573.1:p.Ser1903_Val2308delinsGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_006714379.1:p.Ser3531Ter",
        "hgvsWellDefined": "XP_006714379.1:p.Ser3531_Val3936delinsGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913199915",
      "coordinates": [
        {
          "allele": "G",
          "end": 11507,
          "referenceAllele": "C",
          "start": 11506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
      "geneSymbol": "FRAS1",
      "hgvs": [
        "NM_025074.7:c.10820C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079350.5:p.Ser3607Ter",
        "hgvsWellDefined": "NP_079350.5:p.Ser3607_Val4012delinsGlyGluTyrThrIleTyrLeuIleProCysThrValGlnProThrGlnProTrpValAspProGlyGluLysProLeuAlaCysThrAlaHisAlaProGluArgPheLeuIleProIleAlaPheGlnGlnThrAsnArgProValProValValTyrSerLeuAsnThrGluPheGlnLeuCysAsnAsnGluLysValPheLeuMetAspProAsnThrSerAspMetSerLeuAlaGluMetAspTyrLysGlyAlaPheSerLysGlyGlnIleLeuTyrGlyArgValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670885",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.10820C>G"
          },
          "RefSeq": {
            "hgvs": "NM_025074.7:c.10820C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Ser3607Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Ser3607Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}