{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2399163531",
  "communityStandardTitle": [
    "NM_021115.5(SEZ6L):c.2827+941A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/731276",
        "rs": 731276
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 26374424,
          "referenceAllele": "A",
          "start": 26374423
        }
      ],
      "hgvs": [
        "NC_000022.11:g.26374424A=",
        "CM000684.2:g.26374424A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 26770390,
          "referenceAllele": "A",
          "start": 26770389
        }
      ],
      "hgvs": [
        "NC_000022.10:g.26770390A=",
        "CM000684.1:g.26770390A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 25100390,
          "referenceAllele": "A",
          "start": 25100389
        }
      ],
      "hgvs": [
        "NC_000022.9:g.25100390A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 209951,
          "referenceAllele": "A",
          "start": 209950
        }
      ],
      "hgvs": [
        "NG_054877.1:g.209951A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617518"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3035,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 3035,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "ENST00000248933.11:c.2827+941A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248933.6:n.2827+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741382",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248933.11:c.2827+941A="
          },
          "RefSeq": {
            "hgvs": "NM_021115.5:c.2827+941A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248933.6:n.2827+941A="
          },
          "RefSeq": {
            "hgvs": "NP_066938.2:n.2827+941A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2922,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2922,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "ENST00000248933.10:c.2827+941A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248933.6:n.2827+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2611,
          "endIntronDirection": "-",
          "endIntronOffset": 1150,
          "referenceAllele": "A",
          "start": 2611,
          "startIntronDirection": "-",
          "startIntronOffset": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "ENST00000343706.8:c.2600-1151A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342661.4:n.2600-1151A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2758,
          "endIntronDirection": "-",
          "endIntronOffset": 1150,
          "referenceAllele": "A",
          "start": 2758,
          "startIntronDirection": "-",
          "startIntronOffset": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "ENST00000360929.7:c.2603-1151A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354185.3:n.2603-1151A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2888,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2888,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "ENST00000402979.1:c.2146+941A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384733.1:n.2146+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2660,
          "endIntronDirection": "-",
          "endIntronOffset": 1153,
          "referenceAllele": "A",
          "start": 2660,
          "startIntronDirection": "-",
          "startIntronOffset": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "ENST00000403121.5:c.1919-1154A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384838.1:n.1919-1154A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3023,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 3023,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "ENST00000404234.7:c.2827+941A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384772.3:n.2827+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "endIntronDirection": "-",
          "endIntronOffset": 1153,
          "referenceAllele": "A",
          "start": 403,
          "startIntronDirection": "-",
          "startIntronOffset": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "ENST00000494013.1:n.404-1154A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2990,
          "endIntronDirection": "-",
          "endIntronOffset": 1156,
          "referenceAllele": "A",
          "start": 2990,
          "startIntronDirection": "-",
          "startIntronOffset": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "ENST00000529632.6:c.2795-1157A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437037.3:n.2795-1157A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2889,
          "endIntronDirection": "-",
          "endIntronOffset": 1150,
          "referenceAllele": "A",
          "start": 2889,
          "startIntronDirection": "-",
          "startIntronOffset": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "ENST00000629590.2:c.2795-1151A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485720.1:n.2795-1151A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3023,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 3023,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_001184773.1:c.2827+941A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171702.1:n.2827+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2990,
          "endIntronDirection": "-",
          "endIntronOffset": 1150,
          "referenceAllele": "A",
          "start": 2990,
          "startIntronDirection": "-",
          "startIntronOffset": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_001184774.1:c.2795-1151A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171703.1:n.2795-1151A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2990,
          "endIntronDirection": "-",
          "endIntronOffset": 1156,
          "referenceAllele": "A",
          "start": 2990,
          "startIntronDirection": "-",
          "startIntronOffset": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_001184775.1:c.2795-1157A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171704.1:n.2795-1157A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2798,
          "endIntronDirection": "-",
          "endIntronOffset": 1150,
          "referenceAllele": "A",
          "start": 2798,
          "startIntronDirection": "-",
          "startIntronOffset": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_001184776.1:c.2603-1151A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171705.1:n.2603-1151A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2795,
          "endIntronDirection": "-",
          "endIntronOffset": 1150,
          "referenceAllele": "A",
          "start": 2795,
          "startIntronDirection": "-",
          "startIntronOffset": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_001184777.1:c.2600-1151A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171706.1:n.2600-1151A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3023,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 3023,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_021115.4:c.2827+941A="
      ],
      "proteinEffect": {
        "hgvs": "NP_066938.2:n.2827+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2969,
          "endIntronDirection": "-",
          "endIntronOffset": 1153,
          "referenceAllele": "A",
          "start": 2969,
          "startIntronDirection": "-",
          "startIntronOffset": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_005261439.2:c.2795-1154A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005261496.1:n.2795-1154A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2811,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2811,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_005261440.2:c.2635+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005261497.1:n.2635+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3002,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 3002,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_006724195.2:c.2827+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724258.1:n.2827+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2807,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2807,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_011530037.1:c.2632+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528339.1:n.2632+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2807,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2807,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_011530038.1:c.2632+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528340.1:n.2632+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2807,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2807,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_011530039.1:c.2632+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528341.1:n.2632+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2966,
          "endIntronDirection": "-",
          "endIntronOffset": 1153,
          "referenceAllele": "A",
          "start": 2966,
          "startIntronDirection": "-",
          "startIntronOffset": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_005261439.3:c.2795-1154A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005261496.1:n.2795-1154A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2808,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2808,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_005261440.3:c.2635+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005261497.1:n.2635+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2999,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_006724195.3:c.2827+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724258.1:n.2827+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2804,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2804,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_011530037.2:c.2632+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528339.1:n.2632+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2804,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2804,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_011530038.2:c.2632+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528340.1:n.2632+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2804,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2804,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_011530039.2:c.2632+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528341.1:n.2632+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2808,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2808,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_017028699.1:c.2635+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884188.1:n.2635+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2808,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 2808,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "XM_017028700.1:c.2635+941A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884189.1:n.2635+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3035,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 3035,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_021115.5:c.2827+941A="
      ],
      "proteinEffect": {
        "hgvs": "NP_066938.2:n.2827+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670217",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248933.11:c.2827+941A="
          },
          "RefSeq": {
            "hgvs": "NM_021115.5:c.2827+941A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248933.6:n.2827+941A="
          },
          "RefSeq": {
            "hgvs": "NP_066938.2:n.2827+941A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3035,
          "endIntronDirection": "+",
          "endIntronOffset": 941,
          "referenceAllele": "A",
          "start": 3035,
          "startIntronDirection": "+",
          "startIntronOffset": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_001184773.2:c.2827+941A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171702.1:n.2827+941A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3002,
          "endIntronDirection": "-",
          "endIntronOffset": 1150,
          "referenceAllele": "A",
          "start": 3002,
          "startIntronDirection": "-",
          "startIntronOffset": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_001184774.2:c.2795-1151A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171703.1:n.2795-1151A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2810,
          "endIntronDirection": "-",
          "endIntronOffset": 1150,
          "referenceAllele": "A",
          "start": 2810,
          "startIntronDirection": "-",
          "startIntronOffset": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_001184776.2:c.2603-1151A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171705.1:n.2603-1151A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2807,
          "endIntronDirection": "-",
          "endIntronOffset": 1150,
          "referenceAllele": "A",
          "start": 2807,
          "startIntronDirection": "-",
          "startIntronOffset": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_001184777.2:c.2600-1151A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171706.1:n.2600-1151A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3002,
          "endIntronDirection": "-",
          "endIntronOffset": 1156,
          "referenceAllele": "A",
          "start": 3002,
          "startIntronDirection": "-",
          "startIntronOffset": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010763",
      "geneNCBI_id": 23544,
      "geneSymbol": "SEZ6L",
      "hgvs": [
        "NM_001184775.2:c.2795-1157A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171704.1:n.2795-1157A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713613"
    }
  ],
  "type": "nucleotide"
}