{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA299218",
  "communityStandardTitle": [
    "NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180359[alleleid]",
        "alleleId": 180359,
        "preferredName": "NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/182497",
        "RCV": [
          "RCV000160499",
          "RCV000472455",
          "RCV000781350",
          "RCV004019942"
        ],
        "variationId": 182497
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98002957G>A?assembly=hg19",
        "id": "chr9:g.98002957G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95240675G>A?assembly=hg38",
        "id": "chr9:g.95240675G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730881731",
        "rs": 730881731
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 95240675,
          "referenceAllele": "G",
          "start": 95240674
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95240675G>A",
        "CM000671.2:g.95240675G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 98002957,
          "referenceAllele": "G",
          "start": 98002956
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98002957G>A",
        "CM000671.1:g.98002957G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 97042778,
          "referenceAllele": "G",
          "start": 97042777
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97042778G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82035,
          "referenceAllele": "C",
          "start": 82034
        }
      ],
      "hgvs": [
        "NG_011707.1:g.82035C>T",
        "LRG_497:g.82035C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001916"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000696261.1:n.565C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000696262.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512510.1:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000512510.1:p.Gln107_Glu118delinsSerLysLeuAsnSerTrpIleGlnValArgGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.8:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000289081.3:p.Gln107_Val558delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.319C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.319C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Gln107Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Gln107Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.6:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000364454.1:p.Gln107_Val558delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.7:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000479931.1:p.Gln107_Ile492delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetMetAlaTyrValMetAlaThrCysArgHisGlyAspLeuGlnProCysGlyGlnArgArgSerProValProThrGluValAlaArgAspGluThrLeuProAlaHisSerProAlaLysArgArgProPhePheProLysValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000636777.1:n.377C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000647778.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498125.1:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000498125.1:p.Gln107Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000647882.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497025.1:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000497025.1:p.Gln107Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1957,
          "referenceAllele": "C",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000648415.1:n.1957C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000649334.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497735.1:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000497735.1:p.Gln107_Tyr119delinsSerLysLeuAsnSerTrpIleGlnValGluLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000649519.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497630.1:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000497630.1:p.Gln107_Gln115delinsSerLysLeuAsnSerTrpIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34,
          "referenceAllele": "C",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000649701.1:n.34C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000649872.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497195.1:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000497195.1:p.Gln107_Asp131delinsSerLysLeuAsnSerTrpIleGlnThrGluThrSerProLeuProGlySerLysAlaCysTrpProSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000650176.1:n.499C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.7:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000289081.3:p.Gln107_Val558delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.5:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000364454.1:p.Gln107_Val558delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000433829.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406908.1:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000406908.1:p.Gln107_Leu150del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000474949.1:n.581C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.6:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:p.Gln107Ter",
        "hgvsWellDefined": "ENSP00000479931.1:p.Gln107_Ile492delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetMetAlaTyrValMetAlaThrCysArgHisGlyAspLeuGlnProCysGlyGlnArgArgSerProValProThrGluValAlaArgAspGluThrLeuProAlaHisSerProAlaLysArgArgProPhePheProLysValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA299220",
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.2:c.319C>T",
        "LRG_497t1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Gln107Ter",
        "hgvsWellDefined": "NP_000127.2:p.Gln107_Val558delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006198"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826330333",
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Gln107Ter",
        "hgvsWellDefined": "NP_001230672.1:p.Gln107_Val558delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645405542",
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Gln107Ter",
        "hgvsWellDefined": "NP_001230673.1:p.Gln107_Ile492delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetMetAlaTyrValMetAlaThrCysArgHisGlyAspLeuGlnProCysGlyGlnArgArgSerProValProThrGluValAlaArgAspGluThrLeuProAlaHisSerProAlaLysArgArgProPhePheProLysValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:p.Gln107Ter",
        "hgvsWellDefined": "XP_006717064.1:p.Gln107_Val503delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.2:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:p.Gln107Ter",
        "hgvsWellDefined": "XP_006717065.1:p.Gln107_Trp454delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValSerSerTrpHisGlyAlaLeuThrAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717004.2:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717067.1:p.Gln107Ter",
        "hgvsWellDefined": "XP_006717067.1:p.Gln107_His342delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnIleSerLeuGlyAspThrGlySerArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:p.Gln107Ter",
        "hgvsWellDefined": "XP_011516667.1:p.Gln107_Val558delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:p.Gln107Ter",
        "hgvsWellDefined": "XP_011516668.1:p.Gln107_Trp445delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.1:c.-283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:n.-283C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.3:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:p.Gln107Ter",
        "hgvsWellDefined": "XP_006717064.1:p.Gln107_Val503delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.4:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:p.Gln107Ter",
        "hgvsWellDefined": "XP_006717065.1:p.Gln107_Trp454delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValSerSerTrpHisGlyAlaLeuThrAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717004.4:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717067.1:p.Gln107Ter",
        "hgvsWellDefined": "XP_006717067.1:p.Gln107_His342delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnIleSerLeuGlyAspThrGlySerArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2390,
          "referenceAllele": "C",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.3:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:p.Gln107Ter",
        "hgvsWellDefined": "XP_011516667.1:p.Gln107_Val558delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.3:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:p.Gln107Ter",
        "hgvsWellDefined": "XP_011516668.1:p.Gln107_Trp445delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.2:c.-283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:n.-283C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014452.2:c.-283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869941.1:n.-283C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014453.1:c.-283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869942.1:n.-283C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014454.1:c.-283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869943.1:n.-283C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_024447451.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303219.1:p.Gln107Ter",
        "hgvsWellDefined": "XP_024303219.1:p.Gln107_Val558delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA299220",
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.3:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Gln107Ter",
        "hgvsWellDefined": "NP_000127.2:p.Gln107_Val558delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674720",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.319C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.319C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Gln107Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Gln107Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826330333",
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.2:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Gln107Ter",
        "hgvsWellDefined": "NP_001230672.1:p.Gln107_Val558delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetValGlnValLysAlaValLeuGlyHisLeuLeuAlaMetSerArgSerSerSerLeuSerAlaGlnAspLeuGlnThrValAlaGlyGlnGlyThrAspThrAspLeuArgAlaProAlaGlnGlnLeuIleArgHisLeuLeuLeuAsnPheLeuLeuTrpAlaProGlyGlyHisThrIleAlaTrpAspValIleThrLeuMetAlaHisThrAlaGluIleThrHisGluIleIleGlyPheLeuAspGlnThrLeuTyrArgTrpAsnArgLeuGlyIleGluSerProArgSerGluLysLeuAlaArgGluLeuLeuLysGluLeuArgThrGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645405542",
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.2:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Gln107Ter",
        "hgvsWellDefined": "NP_001230673.1:p.Gln107_Ile492delinsSerLysLeuAsnSerTrpIleGlnGlyValLeuSerHisIleLeuSerAlaLeuArgPheAspLysGluValAlaLeuPheThrGlnGlyLeuGlyTyrAlaProIleAspTyrTyrProGlyLeuLeuLysAsnMetValLeuSerLeuAlaSerGluLeuArgGluAsnHisLeuAsnGlyPheAsnThrGlnArgArgMetAlaProGluArgValAlaSerLeuSerArgValCysValProLeuIleThrLeuThrAspValAspProLeuValGluAlaLeuLeuIleCysHisGlyArgGluProGlnGluIleLeuGlnProGluPhePheGluAlaValAsnGluAlaIleLeuLeuLysLysIleSerLeuProMetSerAlaValValCysLeuTrpLeuArgHisLeuProSerLeuGluLysAlaMetLeuHisLeuPheGluLysLeuIleSerSerGluArgAsnCysLeuArgArgIleGluCysPheIleLysAspSerSerLeuProGlnAlaAlaCysHisProAlaIlePheArgValValAspGluMetPheArgCysAlaLeuLeuGluThrAspGlyAlaLeuGluIleIleAlaThrIleGlnValPheThrGlnCysPheValGluAlaLeuGluLysAlaSerLysGlnLeuArgPheAlaLeuLysThrTyrPheProTyrThrSerProSerLeuAlaMetValLeuLeuGlnAspProGlnAspIleProArgGlyHisTrpLeuGlnThrLeuLysHisIleSerGluLeuLeuArgGluAlaValGluAspGlnThrHisGlySerCysGlyGlyProPheGluSerTrpPheLeuPheIleHisPheGlyGlyTrpAlaGluMetValAlaGluGlnLeuLeuMetSerAlaAlaGluProProThrAlaLeuLeuTrpLeuLeuAlaPheTyrTyrGlyProArgAspGlyArgGlnGlnArgAlaGlnThrMetMetAlaTyrValMetAlaThrCysArgHisGlyAspLeuGlnProCysGlyGlnArgArgSerProValProThrGluValAlaArgAspGluThrLeuProAlaHisSerProAlaLysArgArgProPhePheProLysValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714505"
    }
  ],
  "type": "nucleotide"
}