{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406616418",
  "communityStandardTitle": [
    "NM_001394372.1(BICRA):c.1933C>T (p.Gln645Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2415402[alleleid]",
        "alleleId": 2415402,
        "preferredName": "NM_001394372.1(BICRA):c.1933C>T (p.Gln645Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2441686",
        "RCV": [
          "RCV003147923"
        ],
        "variationId": 2441686
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.48184360C>T?assembly=hg19",
        "id": "chr19:g.48184360C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.47681103C>T?assembly=hg38",
        "id": "chr19:g.47681103C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2514111692",
        "rs": 2514111692
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 47681103,
          "referenceAllele": "C",
          "start": 47681102
        }
      ],
      "hgvs": [
        "NC_000019.10:g.47681103C>T",
        "CM000681.2:g.47681103C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 48184360,
          "referenceAllele": "C",
          "start": 48184359
        }
      ],
      "hgvs": [
        "NC_000019.9:g.48184360C>T",
        "CM000681.1:g.48184360C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 52876172,
          "referenceAllele": "C",
          "start": 52876171
        }
      ],
      "hgvs": [
        "NC_000019.8:g.52876172C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2075,
          "referenceAllele": "C",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "ENST00000594866.3:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469738.2:p.Gln645Ter",
        "hgvsWellDefined": "ENSP00000469738.2:p.Gln646_Arg1560delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826305",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000594866.3:c.1933C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001394372.1:c.1933C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469738.2:p.Gln645Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001381301.1:p.Gln645Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2142,
          "referenceAllele": "C",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "ENST00000614245.2:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480219.2:p.Gln403Ter",
        "hgvsWellDefined": "ENSP00000480219.2:p.Gln404_Arg1318delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "ENST00000396720.7:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379946.2:p.Gln645Ter",
        "hgvsWellDefined": "ENSP00000379946.2:p.Gln646_Arg1560delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2140,
          "referenceAllele": "C",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "ENST00000614245.1:c.1777C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480219.1:p.Gln593Ter",
        "hgvsWellDefined": "ENSP00000480219.1:p.Gln594_Arg1508delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580380811",
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "NM_015711.3:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056526.3:p.Gln645Ter",
        "hgvsWellDefined": "NP_056526.3:p.Gln646_Arg1560delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2151,
          "referenceAllele": "C",
          "start": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_005258833.3:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258890.1:p.Gln645Ter",
        "hgvsWellDefined": "XP_005258890.1:p.Gln646_Arg1560delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2151,
          "referenceAllele": "C",
          "start": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_006723180.2:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723243.1:p.Gln645Ter",
        "hgvsWellDefined": "XP_006723243.1:p.Gln646_Arg1200delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2456,
          "referenceAllele": "C",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_011526882.1:c.1795C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525184.1:p.Gln599Ter",
        "hgvsWellDefined": "XP_011525184.1:p.Gln600_Arg1514delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2151,
          "referenceAllele": "C",
          "start": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_011526883.1:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525185.1:p.Gln645Ter",
        "hgvsWellDefined": "XP_011525185.1:p.Gln646_Arg1501delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2170,
          "referenceAllele": "C",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_005258833.4:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258890.1:p.Gln645Ter",
        "hgvsWellDefined": "XP_005258890.1:p.Gln646_Arg1560delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2170,
          "referenceAllele": "C",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_006723180.3:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723243.1:p.Gln645Ter",
        "hgvsWellDefined": "XP_006723243.1:p.Gln646_Arg1200delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3137,
          "referenceAllele": "C",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_011526882.2:c.1795C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525184.1:p.Gln599Ter",
        "hgvsWellDefined": "XP_011525184.1:p.Gln600_Arg1514delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2170,
          "referenceAllele": "C",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_011526883.2:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525185.1:p.Gln645Ter",
        "hgvsWellDefined": "XP_011525185.1:p.Gln646_Arg1501delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829222859",
      "coordinates": [
        {
          "allele": "T",
          "end": 2075,
          "referenceAllele": "C",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "NM_001394372.1:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381301.1:p.Gln645Ter",
        "hgvsWellDefined": "NP_001381301.1:p.Gln646_Arg1560delinsProProGlnAlaProThrProGlnAlaAlaAlaProProGlnAlaThrThrProGlnProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000594866.3:c.1933C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001394372.1:c.1933C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469738.2:p.Gln645Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001381301.1:p.Gln645Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}