{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16605573",
  "communityStandardTitle": [
    "NM_001032221.6(STXBP1):c.1689G>A (p.Trp563Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=370537[alleleid]",
        "alleleId": 370537,
        "preferredName": "NM_001032221.6(STXBP1):c.1689G>A (p.Trp563Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379255",
        "RCV": [
          "RCV000427600"
        ],
        "variationId": 379255
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130444826G>A?assembly=hg19",
        "id": "chr9:g.130444826G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127682547G>A?assembly=hg38",
        "id": "chr9:g.127682547G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520544",
        "rs": 1057520544
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 127682547,
          "referenceAllele": "G",
          "start": 127682546
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127682547G>A",
        "CM000671.2:g.127682547G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 130444826,
          "referenceAllele": "G",
          "start": 130444825
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130444826G>A",
        "CM000671.1:g.130444826G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 129484647,
          "referenceAllele": "G",
          "start": 129484646
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129484647G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 75341,
          "referenceAllele": "G",
          "start": 75340
        }
      ],
      "hgvs": [
        "NG_016623.1:g.75341G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003236"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1889,
          "referenceAllele": "G",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000704680.1:c.1647G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515991.1:p.Trp549Ter",
        "hgvsWellDefined": "ENSP00000515991.1:p.Trp549_Ser580delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000704681.1:c.1634G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515992.1:n.1634G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373299.5:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362396.2:p.Trp563Ter",
        "hgvsWellDefined": "ENSP00000362396.2:p.Trp563_Ser594delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751202",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373299.5:c.1689G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001032221.6:c.1689G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362396.2:p.Trp563Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001027392.1:p.Trp563Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373302.8:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362399.3:p.Trp563Ter",
        "hgvsWellDefined": "ENSP00000362399.3:p.Trp563_Glu603delinsGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373302.8:c.1689G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003165.6:c.1689G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:p.Trp563Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003156.1:p.Trp563Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1866,
          "referenceAllele": "G",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000626539.3:c.1647G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487211.2:p.Trp549Ter",
        "hgvsWellDefined": "ENSP00000487211.2:p.Trp549_Ser580delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "referenceAllele": "G",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000635950.2:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490903.1:p.Trp563Ter",
        "hgvsWellDefined": "ENSP00000490903.1:p.Trp563_Ser574delinsGluValLeuIleValProValGluAlaGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1975,
          "referenceAllele": "G",
          "start": 1974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000636509.2:c.*644G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490810.1:n.*644G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "referenceAllele": "G",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000636962.2:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489762.1:p.Trp563Ter",
        "hgvsWellDefined": "ENSP00000489762.1:p.Trp563_Ser574delinsGluValLeuIleValProValGluAlaGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1851,
          "referenceAllele": "G",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637060.2:c.*1331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490674.2:n.*1331G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2018,
          "referenceAllele": "G",
          "start": 2017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637173.2:c.1647G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490519.1:p.Trp549Ter",
        "hgvsWellDefined": "ENSP00000490519.1:p.Trp549_Ser580delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2919,
          "referenceAllele": "G",
          "start": 2918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637464.2:c.*2553G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489655.2:n.*2553G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1817,
          "referenceAllele": "G",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637521.2:c.1647G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489791.1:p.Trp549Ter",
        "hgvsWellDefined": "ENSP00000489791.1:p.Trp549_Glu589delinsGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "referenceAllele": "G",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637953.1:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490613.1:p.Trp563Ter",
        "hgvsWellDefined": "ENSP00000490613.1:p.Trp563_Arg577delinsGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1631,
          "referenceAllele": "G",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000647107.1:c.1631G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1923,
          "referenceAllele": "G",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000650920.1:c.1647G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498834.1:p.Trp549Ter",
        "hgvsWellDefined": "ENSP00000498834.1:p.Trp549_Glu589delinsGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373299.4:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362396.1:p.Trp563Ter",
        "hgvsWellDefined": "ENSP00000362396.1:p.Trp563_Ser594delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269616"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "referenceAllele": "G",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373302.7:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362399.3:p.Trp563Ter",
        "hgvsWellDefined": "ENSP00000362399.3:p.Trp563_Glu603delinsGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 237,
          "referenceAllele": "G",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000494254.3:c.237G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485397.1:p.Trp79Ter",
        "hgvsWellDefined": "ENSP00000485397.1:p.Trp79_Glu119delinsGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1525,
          "referenceAllele": "G",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000626416.2:n.1525G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 281,
          "referenceAllele": "G",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000628638.1:n.281G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407084"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825360444",
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "referenceAllele": "G",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.3:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027392.1:p.Trp563Ter",
        "hgvsWellDefined": "NP_001027392.1:p.Trp563_Ser594delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645402378",
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "referenceAllele": "G",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.3:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Trp563Ter",
        "hgvsWellDefined": "NP_003156.1:p.Trp563_Glu603delinsGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825360444",
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.6:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027392.1:p.Trp563Ter",
        "hgvsWellDefined": "NP_001027392.1:p.Trp563_Ser594delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373299.5:c.1689G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001032221.6:c.1689G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362396.2:p.Trp563Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001027392.1:p.Trp563Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828497215",
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "G",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374306.2:c.1680G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361235.1:p.Trp560Ter",
        "hgvsWellDefined": "NP_001361235.1:p.Trp560_Ser591delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828497783",
      "coordinates": [
        {
          "allele": "A",
          "end": 1911,
          "referenceAllele": "G",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374307.2:c.1647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361236.1:p.Trp549Ter",
        "hgvsWellDefined": "NP_001361236.1:p.Trp549_Glu589delinsGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828498364",
      "coordinates": [
        {
          "allele": "A",
          "end": 2006,
          "referenceAllele": "G",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374308.2:c.1647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361237.1:p.Trp549Ter",
        "hgvsWellDefined": "NP_001361237.1:p.Trp549_Glu589delinsGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828498945",
      "coordinates": [
        {
          "allele": "A",
          "end": 1788,
          "referenceAllele": "G",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374309.2:c.1647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361238.1:p.Trp549Ter",
        "hgvsWellDefined": "NP_001361238.1:p.Trp549_Ser580delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828499513",
      "coordinates": [
        {
          "allele": "A",
          "end": 2006,
          "referenceAllele": "G",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374310.2:c.1647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361239.1:p.Trp549Ter",
        "hgvsWellDefined": "NP_001361239.1:p.Trp549_Ser580delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828500081",
      "coordinates": [
        {
          "allele": "A",
          "end": 1911,
          "referenceAllele": "G",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374311.2:c.1647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361240.1:p.Trp549Ter",
        "hgvsWellDefined": "NP_001361240.1:p.Trp549_Ser580delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828500626",
      "coordinates": [
        {
          "allele": "A",
          "end": 1918,
          "referenceAllele": "G",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374312.2:c.1647G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361241.1:p.Trp549Ter",
        "hgvsWellDefined": "NP_001361241.1:p.Trp549_Ser580delinsGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828501213",
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374313.2:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361242.1:p.Trp563Ter",
        "hgvsWellDefined": "NP_001361242.1:p.Trp563_Arg577delinsGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828501790",
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374314.1:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361243.1:p.Trp563Ter",
        "hgvsWellDefined": "NP_001361243.1:p.Trp563_Ser574delinsGluValLeuIleValProValGluAlaGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828502324",
      "coordinates": [
        {
          "allele": "A",
          "end": 1708,
          "referenceAllele": "G",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374315.2:c.1581G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361244.1:p.Trp527Ter",
        "hgvsWellDefined": "NP_001361244.1:p.Trp527_Glu567delinsGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645402378",
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.6:c.1689G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Trp563Ter",
        "hgvsWellDefined": "NP_003156.1:p.Trp563_Glu603delinsGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373302.8:c.1689G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003165.6:c.1689G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:p.Trp563Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003156.1:p.Trp563Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}