{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA830524332",
  "communityStandardTitle": [
    "NM_000665.5(ACHE):c.1553+316G>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.100489639C>G?assembly=hg19",
        "id": "chr7:g.100489639C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.100892018C>G?assembly=hg38",
        "id": "chr7:g.100892018C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2571598",
        "rs": 2571598
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 100892018,
          "referenceAllele": "C",
          "start": 100892017
        }
      ],
      "hgvs": [
        "NC_000007.14:g.100892018C>G",
        "CM000669.2:g.100892018C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 100489639,
          "referenceAllele": "C",
          "start": 100489638
        }
      ],
      "hgvs": [
        "NC_000007.13:g.100489639C>G",
        "CM000669.1:g.100489639C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 100327575,
          "referenceAllele": "C",
          "start": 100327574
        }
      ],
      "hgvs": [
        "NC_000007.12:g.100327575C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8903,
          "referenceAllele": "G",
          "start": 8902
        }
      ],
      "hgvs": [
        "NG_007474.1:g.8903G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9116,
          "referenceAllele": "G",
          "start": 9115
        }
      ],
      "hgvs": [
        "NG_007474.2:g.9116G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616076"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1660,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000241069.11:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241069.5:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741102",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000241069.11:c.1553+316G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000665.5:c.1553+316G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000241069.5:n.1553+316G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000656.1:n.1553+316G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1663,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1663,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000411582.4:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404865.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1644,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1644,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000428317.7:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414858.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1996,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1996,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000651875.1:n.1996+316G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1660,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000241069.9:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241069.5:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1692,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1692,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000302913.8:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303211.4:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1636,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1636,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000411582.1:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404865.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1709,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1709,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000412389.5:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394976.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1394,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1394,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000419336.6:c.1289+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403474.2:n.1289+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1069,
          "endIntronDirection": "+",
          "endIntronOffset": 1147,
          "referenceAllele": "G",
          "start": 1069,
          "startIntronDirection": "+",
          "startIntronOffset": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000426415.5:c.1068+1147G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397143.1:n.1068+1147G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1647,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1647,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000428317.5:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414858.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1180,
          "endIntronDirection": "+",
          "endIntronOffset": 690,
          "referenceAllele": "G",
          "start": 1180,
          "startIntronDirection": "+",
          "startIntronOffset": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000430554.1:c.1179+690G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399725.1:n.1179+690G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1069,
          "endIntronDirection": "-",
          "endIntronOffset": 679,
          "referenceAllele": "G",
          "start": 1069,
          "startIntronDirection": "-",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000440755.5:c.1069-680G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410380.1:n.1069-680G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1177,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1177,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000442452.1:c.*1008+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415901.1:n.*1008+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1201,
          "endIntronDirection": "+",
          "endIntronOffset": 669,
          "referenceAllele": "G",
          "start": 1201,
          "startIntronDirection": "+",
          "startIntronOffset": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "ENST00000454485.5:c.1200+669G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390004.1:n.1200+669G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302584"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1743,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1743,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_000665.4:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000656.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001282449.1:c.1289+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269378.1:n.1289+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1746,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1746,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001302621.1:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289550.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1648,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1648,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001302622.1:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289551.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1692,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1692,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_015831.2:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056646.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1648,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1648,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_006715995.2:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716058.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 2099,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_011516225.1:c.2051+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514527.1:n.2051+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1835,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1835,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_011516226.1:c.1787+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514528.1:n.1787+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083429"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1710,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1710,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_011516227.1:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514529.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1648,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1648,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_011516228.1:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514530.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1630,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1630,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_011516229.1:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514531.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1924,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1924,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XR_927464.1:n.1924+316G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1614,
          "endIntronDirection": "-",
          "endIntronOffset": 679,
          "referenceAllele": "G",
          "start": 1614,
          "startIntronDirection": "-",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XR_927465.1:n.1615-680G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3024,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 3024,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_011516225.2:c.2051+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514527.1:n.2051+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2766,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 2766,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_011516226.2:c.1787+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514528.1:n.1787+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1651,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1651,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_011516228.2:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514530.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1592,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1592,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_011516229.2:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514531.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3017,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 3017,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_017012219.2:c.2051+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867708.1:n.2051+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2762,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 2762,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_017012220.2:c.1787+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867709.1:n.1787+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1660,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_024446768.1:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302536.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1663,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1663,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_024446769.1:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302537.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1650,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1650,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XM_024446770.1:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302538.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2534,
          "endIntronDirection": "-",
          "endIntronOffset": 679,
          "referenceAllele": "G",
          "start": 2534,
          "startIntronDirection": "-",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XR_001744773.2:n.2535-680G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2849,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 2849,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XR_927464.3:n.2849+316G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2534,
          "endIntronDirection": "-",
          "endIntronOffset": 679,
          "referenceAllele": "G",
          "start": 2534,
          "startIntronDirection": "-",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "XR_927465.3:n.2535-680G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1660,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_000665.5:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000656.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662523",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000241069.11:c.1553+316G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000665.5:c.1553+316G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000241069.5:n.1553+316G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000656.1:n.1553+316G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1396,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001282449.2:c.1289+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269378.1:n.1289+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1663,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1663,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001302621.2:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289550.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1644,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1644,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001302622.2:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289551.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664293"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1663,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1663,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001367915.1:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354844.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1647,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1647,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001367917.1:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354846.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2018,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 2018,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001367918.1:c.1754+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354847.1:n.1754+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2015,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 2015,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001367919.1:c.1751+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354848.1:n.1751+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "-",
          "endIntronOffset": 679,
          "referenceAllele": "G",
          "start": 1533,
          "startIntronDirection": "-",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NR_160407.1:n.1534-680G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 679,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NR_160408.1:n.1176-680G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1663,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 1663,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001302621.3:c.1553+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289550.1:n.1553+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2015,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 2015,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NM_001367919.2:c.1751+316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354848.1:n.1751+316G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 679,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000108",
      "geneNCBI_id": 43,
      "geneSymbol": "ACHE",
      "hgvs": [
        "NR_160408.2:n.1176-680G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705054"
    }
  ],
  "type": "nucleotide"
}