{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10647003",
  "communityStandardTitle": [
    "NM_025137.4(SPG11):c.2317-13C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=340582[alleleid]",
        "alleleId": 340582,
        "preferredName": "NM_025137.4(SPG11):c.2317-13C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/316101",
        "RCV": [
          "RCV000310734",
          "RCV002286730"
        ],
        "variationId": 316101
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44914558G>C?assembly=hg19",
        "id": "chr15:g.44914558G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44622360G>C?assembly=hg38",
        "id": "chr15:g.44622360G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372670941",
        "rs": 372670941
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44914558-G-C?dataset=gnomad_r2_1",
        "id": "15-44914558-G-C",
        "variant": "15:44914558 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44622360-G-C?dataset=gnomad_r3",
        "id": "15-44622360-G-C",
        "variant": "15:44622360 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44622360-G-C?dataset=gnomad_r4",
        "id": "15-44622360-G-C",
        "variant": "15:44622360 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 44622360,
          "referenceAllele": "G",
          "start": 44622359
        }
      ],
      "hgvs": [
        "NC_000015.10:g.44622360G>C",
        "CM000677.2:g.44622360G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 44914558,
          "referenceAllele": "G",
          "start": 44914557
        }
      ],
      "hgvs": [
        "NC_000015.9:g.44914558G>C",
        "CM000677.1:g.44914558G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 42701850,
          "referenceAllele": "G",
          "start": 42701849
        }
      ],
      "hgvs": [
        "NC_000015.8:g.42701850G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 46319,
          "referenceAllele": "C",
          "start": 46318
        }
      ],
      "hgvs": [
        "NG_008885.1:g.46319C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001280"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2316,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2316,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000559511.6:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453246.2:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682065.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507025.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682460.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508334.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682495.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507166.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682669.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507782.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2331,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2331,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682788.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508089.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2715,
          "referenceAllele": "C",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682877.1:n.2715C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2316,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2316,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682915.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507493.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683121.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507557.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2331,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2331,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683186.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507268.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683255.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508340.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683496.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506968.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2331,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2331,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683573.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508031.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2331,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2331,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683734.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508319.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1440,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1440,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683753.1:n.1441-13C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2079,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684038.1:c.2059-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507141.1:n.2059-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684235.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508295.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2357,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2357,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684676.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506948.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2331,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2331,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.12:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.2317-13C>G"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.2317-13C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:n.2317-13C>G"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:n.2317-13C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2333,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2333,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.11:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2316,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2316,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000427534.6:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396110.2:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2344,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2344,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000535302.6:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445278.2:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000558319.5:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453599.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.3:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038221"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2083,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2083,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_005254695.3:c.2059-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254752.1:n.2059-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720700.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720763.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.2:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720764.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_011522093.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520395.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.1:n.2348-13C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.3:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720764.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022634.1:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878123.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573547"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022635.2:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878124.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 263,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 263,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022636.1:c.-700-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878125.1:n.-700-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_001751402.1:n.2348-13C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2347,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2347,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.2:n.2348-13C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2331,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2331,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.4:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.2317-13C>G"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.2317-13C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:n.2317-13C>G"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:n.2317-13C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2331,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2331,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.2317-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:n.2317-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}