{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7534658",
  "communityStandardTitle": [
    "NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=529344[alleleid]",
        "alleleId": 529344,
        "preferredName": "NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/534855",
        "RCV": [
          "RCV000642552",
          "RCV001508756",
          "RCV002467957",
          "RCV002467956",
          "RCV002530011"
        ],
        "variationId": 534855
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-44887602-T-C",
        "id": "15-44887602-T-C",
        "variant": "15:44887602 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44887602T>C?assembly=hg19",
        "id": "chr15:g.44887602T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44595404T>C?assembly=hg38",
        "id": "chr15:g.44595404T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747973076",
        "rs": 747973076
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44887602-T-C?dataset=gnomad_r2_1",
        "id": "15-44887602-T-C",
        "variant": "15:44887602 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44595404-T-C?dataset=gnomad_r3",
        "id": "15-44595404-T-C",
        "variant": "15:44595404 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44595404-T-C?dataset=gnomad_r4",
        "id": "15-44595404-T-C",
        "variant": "15:44595404 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 44595404,
          "referenceAllele": "T",
          "start": 44595403
        }
      ],
      "hgvs": [
        "NC_000015.10:g.44595404T>C",
        "CM000677.2:g.44595404T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 44887602,
          "referenceAllele": "T",
          "start": 44887601
        }
      ],
      "hgvs": [
        "NC_000015.9:g.44887602T>C",
        "CM000677.1:g.44887602T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 42674894,
          "referenceAllele": "T",
          "start": 42674893
        }
      ],
      "hgvs": [
        "NC_000015.8:g.42674894T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 73275,
          "referenceAllele": "A",
          "start": 73274
        }
      ],
      "hgvs": [
        "NG_008885.1:g.73275A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001280"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4490,
          "referenceAllele": "A",
          "start": 4489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000559511.6:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453246.2:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000453246.2:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 718,
          "referenceAllele": "A",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000561391.2:n.718A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826078"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682065.1:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507025.1:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000507025.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4607,
          "referenceAllele": "A",
          "start": 4606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682460.1:c.*910A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508334.1:n.*910A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4646,
          "referenceAllele": "A",
          "start": 4645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682495.1:c.*982A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507166.1:n.*982A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4320,
          "referenceAllele": "A",
          "start": 4319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682669.1:c.4289A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507782.1:p.Asn1430Ser",
        "hgvsWellDefined": "ENSP00000507782.1:p.Asn1430Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4505,
          "referenceAllele": "A",
          "start": 4504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682788.1:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508089.1:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000508089.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4488,
          "endIntronDirection": "+",
          "endIntronOffset": 656,
          "referenceAllele": "A",
          "start": 4488,
          "startIntronDirection": "+",
          "startIntronOffset": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683121.1:c.4457+656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507557.1:n.4457+656A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4331,
          "referenceAllele": "A",
          "start": 4330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683186.1:c.*1253A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507268.1:n.*1253A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683496.1:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506968.1:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000506968.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4505,
          "referenceAllele": "A",
          "start": 4504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683734.1:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508319.1:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000508319.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3536,
          "referenceAllele": "A",
          "start": 3535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683753.1:n.3536A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4339,
          "referenceAllele": "A",
          "start": 4338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684038.1:c.*910A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507141.1:n.*910A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684235.1:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508295.1:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000508295.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4531,
          "referenceAllele": "A",
          "start": 4530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684676.1:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506948.1:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000506948.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4505,
          "referenceAllele": "A",
          "start": 4504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.12:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000261866.7:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.4490A>G"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.4490A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Asn1497Ser"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Asn1497Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4507,
          "referenceAllele": "A",
          "start": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.11:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000261866.7:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4490,
          "referenceAllele": "A",
          "start": 4489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000427534.6:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396110.2:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000396110.2:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4518,
          "referenceAllele": "A",
          "start": 4517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000535302.6:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445278.2:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000445278.2:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 656,
          "referenceAllele": "A",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000558155.1:c.287+656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453238.1:n.287+656A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373591"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000558319.5:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453599.1:p.Asn1497Ser",
        "hgvsWellDefined": "ENSP00000453599.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825947962",
      "coordinates": [
        {
          "allele": "G",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.1:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Asn1497Ser",
        "hgvsWellDefined": "NP_001153699.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658814747",
      "coordinates": [
        {
          "allele": "G",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.3:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Asn1497Ser",
        "hgvsWellDefined": "NP_079413.3:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038221"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4257,
          "referenceAllele": "A",
          "start": 4256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_005254695.3:c.4232A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254752.1:p.Asn1411Ser",
        "hgvsWellDefined": "XP_005254752.1:p.Asn1411Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720700.1:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720763.1:p.Asn1497Ser",
        "hgvsWellDefined": "XP_006720763.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.2:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720764.1:p.Asn1497Ser",
        "hgvsWellDefined": "XP_006720764.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4544,
          "referenceAllele": "A",
          "start": 4543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.1:n.4544A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.3:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720764.1:p.Asn1497Ser",
        "hgvsWellDefined": "XP_006720764.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022634.1:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878123.1:p.Asn1497Ser",
        "hgvsWellDefined": "XP_016878123.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573547"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4521,
          "referenceAllele": "A",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022635.2:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878124.1:p.Asn1497Ser",
        "hgvsWellDefined": "XP_016878124.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2330,
          "referenceAllele": "A",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022636.1:c.1367A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878125.1:p.Asn456Ser",
        "hgvsWellDefined": "XP_016878125.1:p.Asn456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4544,
          "referenceAllele": "A",
          "start": 4543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.2:n.4544A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658814747",
      "coordinates": [
        {
          "allele": "G",
          "end": 4505,
          "referenceAllele": "A",
          "start": 4504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.4:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Asn1497Ser",
        "hgvsWellDefined": "NP_079413.3:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.4490A>G"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.4490A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Asn1497Ser"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Asn1497Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825947962",
      "coordinates": [
        {
          "allele": "G",
          "end": 4505,
          "referenceAllele": "A",
          "start": 4504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.4490A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Asn1497Ser",
        "hgvsWellDefined": "NP_001153699.1:p.Asn1497Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}