{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118458",
  "communityStandardTitle": [
    "NM_001032221.6(STXBP1):c.169+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21770[alleleid]",
        "alleleId": 21770,
        "preferredName": "NM_001032221.6(STXBP1):c.169+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6731",
        "RCV": [
          "RCV000007123"
        ],
        "variationId": 6731
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130416076G>A?assembly=hg19",
        "id": "chr9:g.130416076G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127653797G>A?assembly=hg38",
        "id": "chr9:g.127653797G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587776641",
        "rs": 587776641
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 127653797,
          "referenceAllele": "G",
          "start": 127653796
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127653797G>A",
        "CM000671.2:g.127653797G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 130416076,
          "referenceAllele": "G",
          "start": 130416075
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130416076G>A",
        "CM000671.1:g.130416076G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 129455897,
          "referenceAllele": "G",
          "start": 129455896
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129455897G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46591,
          "referenceAllele": "G",
          "start": 46590
        }
      ],
      "hgvs": [
        "NG_016623.1:g.46591G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003236"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 369,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000704680.1:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515991.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 169,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 169,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000704681.1:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515992.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373299.5:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362396.2:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751202",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373299.5:c.169+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001032221.6:c.169+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362396.2:n.169+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001027392.1:n.169+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373302.8:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362399.3:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373302.8:c.169+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003165.6:c.169+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:n.169+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003156.1:n.169+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 346,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000626539.3:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487211.2:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 351,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000635950.2:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490903.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 375,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 375,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000636509.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490810.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 351,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000636962.2:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489762.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 308,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637060.2:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490674.2:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 498,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637173.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490519.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 325,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 325,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637464.2:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489655.2:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 297,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 297,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637521.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489791.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 351,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637953.1:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490613.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000647107.1:c.111+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 403,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000650920.1:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498834.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 290,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 290,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373299.4:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362396.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269616"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373302.7:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362399.3:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 229,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 229,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000625363.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486944.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 353,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000626333.1:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486814.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000626539.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487211.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 294,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000627871.2:c.58+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485895.1:n.58+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 391,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000630492.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485680.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.3:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027392.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.3:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.6:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027392.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373299.5:c.169+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001032221.6:c.169+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362396.2:n.169+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001027392.1:n.169+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374306.2:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361235.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 391,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374307.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361236.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 486,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 486,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374308.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361237.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 268,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 268,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374309.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361238.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 486,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 486,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374310.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361239.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 391,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374311.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361240.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 398,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374312.2:c.127+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361241.1:n.127+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374313.2:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361242.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374314.1:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361243.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374315.2:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361244.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.6:c.169+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:n.169+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373302.8:c.169+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003165.6:c.169+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:n.169+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003156.1:n.169+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}