{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358137084",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.13588C>T (p.Gln4530Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1696145[alleleid]",
        "alleleId": 1696145,
        "preferredName": "NM_001291303.3(FAT4):c.13588C>T (p.Gln4530Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1703760",
        "RCV": [
          "RCV002280920"
        ],
        "variationId": 1703760
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126411559C>T?assembly=hg19",
        "id": "chr4:g.126411559C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125490404C>T?assembly=hg38",
        "id": "chr4:g.125490404C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2530083642",
        "rs": 2530083642
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 125490404,
          "referenceAllele": "C",
          "start": 125490403
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125490404C>T",
        "CM000666.2:g.125490404C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 126411559,
          "referenceAllele": "C",
          "start": 126411558
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126411559C>T",
        "CM000666.1:g.126411559C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 126631009,
          "referenceAllele": "C",
          "start": 126631008
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126631009C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 178993,
          "referenceAllele": "C",
          "start": 178992
        }
      ],
      "hgvs": [
        "NG_033865.1:g.178993C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14623,
          "referenceAllele": "C",
          "start": 14622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.13588C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Gln4530Ter",
        "hgvsWellDefined": "ENSP00000377862.4:p.Gln4530_Val4983delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.13588C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.13588C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Gln4530Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Gln4530Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9473,
          "referenceAllele": "C",
          "start": 9472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.8359C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:p.Gln2787Ter",
        "hgvsWellDefined": "ENSP00000501473.2:p.Gln2787_Val3240delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8305,
          "referenceAllele": "C",
          "start": 8304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000335110.5:c.8305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335169.5:p.Gln2769Ter",
        "hgvsWellDefined": "ENSP00000335169.5:p.Gln2769_Val3222delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13595,
          "referenceAllele": "C",
          "start": 13594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.13582C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Gln4528Ter",
        "hgvsWellDefined": "ENSP00000377862.3:p.Gln4528_Val4981delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792433",
      "coordinates": [
        {
          "allele": "T",
          "end": 13585,
          "referenceAllele": "C",
          "start": 13584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.13585C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Gln4529Ter",
        "hgvsWellDefined": "NP_001278214.1:p.Gln4529_Val4982delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580185027",
      "coordinates": [
        {
          "allele": "T",
          "end": 13588,
          "referenceAllele": "C",
          "start": 13587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.13588C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Gln4530Ter",
        "hgvsWellDefined": "NP_001278232.1:p.Gln4530_Val4983delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830017143",
      "coordinates": [
        {
          "allele": "T",
          "end": 13582,
          "referenceAllele": "C",
          "start": 13581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.13582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Gln4528Ter",
        "hgvsWellDefined": "NP_078858.4:p.Gln4528_Val4981delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13681,
          "referenceAllele": "C",
          "start": 13680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.13588C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Gln4530Ter",
        "hgvsWellDefined": "XP_011530538.1:p.Gln4530_Val4983delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8490,
          "referenceAllele": "C",
          "start": 8489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.8359C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Gln2787Ter",
        "hgvsWellDefined": "XP_011530539.1:p.Gln2787_Val3240delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14665,
          "referenceAllele": "C",
          "start": 14664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.13588C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Gln4530Ter",
        "hgvsWellDefined": "XP_011530538.1:p.Gln4530_Val4983delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9473,
          "referenceAllele": "C",
          "start": 9472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.8359C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Gln2787Ter",
        "hgvsWellDefined": "XP_011530539.1:p.Gln2787_Val3240delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792433",
      "coordinates": [
        {
          "allele": "T",
          "end": 14620,
          "referenceAllele": "C",
          "start": 14619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.13585C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Gln4529Ter",
        "hgvsWellDefined": "NP_001278214.1:p.Gln4529_Val4982delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580185027",
      "coordinates": [
        {
          "allele": "T",
          "end": 14623,
          "referenceAllele": "C",
          "start": 14622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.13588C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Gln4530Ter",
        "hgvsWellDefined": "NP_001278232.1:p.Gln4530_Val4983delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.13588C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.13588C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Gln4530Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Gln4530Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830017143",
      "coordinates": [
        {
          "allele": "T",
          "end": 14617,
          "referenceAllele": "C",
          "start": 14616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.13582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Gln4528Ter",
        "hgvsWellDefined": "NP_078858.4:p.Gln4528_Val4981delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792433",
      "coordinates": [
        {
          "allele": "T",
          "end": 14620,
          "referenceAllele": "C",
          "start": 14619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.13585C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Gln4529Ter",
        "hgvsWellDefined": "NP_001278214.1:p.Gln4529_Val4982delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830017143",
      "coordinates": [
        {
          "allele": "T",
          "end": 14617,
          "referenceAllele": "C",
          "start": 14616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.13582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Gln4528Ter",
        "hgvsWellDefined": "NP_078858.4:p.Gln4528_Val4981delinsCysArgGlyLysLysAlaLysAsnProLysGluGluLysLysProLysGluLysLysLysLysGlySerGluAsnValAlaPheAspAspProAspAsnIleProProTyrGlyAspAspMetThrValArgLysGlnProGluGlyAsnProLysProAspIleIleGluArgGluAsnProTyrLeuIleTyrAspGluThrAspIleProHisAsnSerGluThrIleProSerAlaProLeuAlaSerProGluGlnGluIleGluHisTyrAspIleAspAsnAlaSerSerIleAlaProSerAspAlaAspIleIleGlnHisTyrLysGlnPheArgSerHisThrProLysPheSerIleGlnArgHisSerProLeuGlyPheAlaArgGlnSerProMetProLeuGlyAlaSerSerLeuThrTyrGlnProSerTyrGlyGlnGlyLeuArgThrSerSerLeuSerHisSerAlaCysProThrProAsnProLeuSerArgHisSerProAlaProPheSerLysSerSerThrPheTyrArgAsnSerProAlaArgGluLeuHisLeuProIleArgAspGlyAsnThrLeuGluMetHisGlyAspThrCysGlnProGlyIlePheAsnTyrAlaThrArgLeuGlyArgArgSerLysSerProGlnAlaMetAlaSerHisGlySerArgProGlySerArgLeuLysGlnProIleGlyGlnIleProLeuGluSerSerProProValGlyLeuSerIleGluGluValGluArgLeuAsnThrProArgProArgAsnProSerIleCysSerAlaAspHisGlyArgSerSerSerGluGluAspCysArgArgProLeuSerArgThrArgAsnProAlaAspGlyIleProAlaProGluSerSerSerAspSerAspSerHisGluSerPheThrCysSerGluMetGluTyrAspArgGluLysProMetValTyrThrSerArgMetProLysLeuSerGlnValAsnGluSerAspAlaAspAspGluAspAsnTyrGlyAlaArgLeuLysProArgArgTyrHisGlyArgArgAlaGluGlyGlyProValGlyThrGlnAlaAlaAlaProGlyThrAlaAspAsnThrLeuProMetLysLeuGlyGlnGlnAlaGlyThrPheAsnTrpAspAsnLeuLeuAsnTrpGlyProGlyPheGlyHisTyrValAspValPheLysAspLeuAlaSerLeuProGluLysAlaAlaAlaAsnGluGluGlyLysAlaGlyThrThrLysProValProLysAspGlyGluAlaGluGlnTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}