{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA151362",
  "communityStandardTitle": [
    "NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132587[alleleid]",
        "alleleId": 132587,
        "preferredName": "NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127076",
        "RCV": [
          "RCV000114939",
          "RCV000440506",
          "RCV000525775"
        ],
        "variationId": 127076
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130430411G>A?assembly=hg19",
        "id": "chr9:g.130430411G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127668132G>A?assembly=hg38",
        "id": "chr9:g.127668132G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777310",
        "rs": 587777310
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 127668132,
          "referenceAllele": "G",
          "start": 127668131
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127668132G>A",
        "CM000671.2:g.127668132G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 130430411,
          "referenceAllele": "G",
          "start": 130430410
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130430411G>A",
        "CM000671.1:g.130430411G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 129470232,
          "referenceAllele": "G",
          "start": 129470231
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129470232G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60926,
          "referenceAllele": "G",
          "start": 60925
        }
      ],
      "hgvs": [
        "NG_016623.1:g.60926G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003236"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000704680.1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515991.1:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000515991.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000704681.1:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515992.1:p.Glu283Lys",
        "hgvsWellDefined": "ENSP00000515992.1:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373299.5:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362396.2:p.Glu283Lys",
        "hgvsWellDefined": "ENSP00000362396.2:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751202",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373299.5:c.847G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001032221.6:c.847G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362396.2:p.Glu283Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001027392.1:p.Glu283Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373302.8:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362399.3:p.Glu283Lys",
        "hgvsWellDefined": "ENSP00000362399.3:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373302.8:c.847G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003165.6:c.847G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:p.Glu283Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003156.1:p.Glu283Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000626539.3:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487211.2:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000487211.2:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000635950.2:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490903.1:p.Glu283Lys",
        "hgvsWellDefined": "ENSP00000490903.1:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000636509.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490810.1:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000490810.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000636962.2:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489762.1:p.Glu283Lys",
        "hgvsWellDefined": "ENSP00000489762.1:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637060.2:c.*489G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490674.2:n.*489G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637173.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490519.1:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000490519.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2077,
          "referenceAllele": "G",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637464.2:c.*1711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489655.2:n.*1711G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 975,
          "referenceAllele": "G",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637521.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489791.1:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000489791.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000637953.1:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490613.1:p.Glu283Lys",
        "hgvsWellDefined": "ENSP00000490613.1:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000647107.1:c.789G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000650920.1:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498834.1:p.Glu269Lys",
        "hgvsWellDefined": "ENSP00000498834.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "referenceAllele": "G",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373299.4:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362396.1:p.Glu283Lys",
        "hgvsWellDefined": "ENSP00000362396.1:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269616"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373302.7:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362399.3:p.Glu283Lys",
        "hgvsWellDefined": "ENSP00000362399.3:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 683,
          "referenceAllele": "G",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000626416.2:n.683G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093089",
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.3:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027392.1:p.Glu283Lys",
        "hgvsWellDefined": "NP_001027392.1:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA151363",
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.3:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Glu283Lys",
        "hgvsWellDefined": "NP_003156.1:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093089",
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.6:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027392.1:p.Glu283Lys",
        "hgvsWellDefined": "NP_001027392.1:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373299.5:c.847G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001032221.6:c.847G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362396.2:p.Glu283Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001027392.1:p.Glu283Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828496930",
      "coordinates": [
        {
          "allele": "A",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374306.2:c.838G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361235.1:p.Glu280Lys",
        "hgvsWellDefined": "NP_001361235.1:p.Glu280Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828497498",
      "coordinates": [
        {
          "allele": "A",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374307.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361236.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_001361236.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828498079",
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374308.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361237.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_001361237.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828498660",
      "coordinates": [
        {
          "allele": "A",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374309.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361238.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_001361238.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828499228",
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374310.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361239.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_001361239.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828499796",
      "coordinates": [
        {
          "allele": "A",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374311.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361240.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_001361240.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828500341",
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374312.2:c.805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361241.1:p.Glu269Lys",
        "hgvsWellDefined": "NP_001361241.1:p.Glu269Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828500928",
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374313.2:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361242.1:p.Glu283Lys",
        "hgvsWellDefined": "NP_001361242.1:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828501505",
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374314.1:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361243.1:p.Glu283Lys",
        "hgvsWellDefined": "NP_001361243.1:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 1765,
          "referenceAllele": "G",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374315.2:c.795-1766G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361244.1:n.795-1766G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA151363",
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.6:c.847G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Glu283Lys",
        "hgvsWellDefined": "NP_003156.1:p.Glu283Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373302.8:c.847G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003165.6:c.847G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:p.Glu283Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003156.1:p.Glu283Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}