{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392230098",
  "communityStandardTitle": [
    "NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=643235[alleleid]",
        "alleleId": 643235,
        "preferredName": "NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/660966",
        "RCV": [
          "RCV000818278",
          "RCV002249527"
        ],
        "variationId": 660966
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44890912A>T?assembly=hg19",
        "id": "chr15:g.44890912A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44598714A>T?assembly=hg38",
        "id": "chr15:g.44598714A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555451521",
        "rs": 1555451521
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44598714-A-T?dataset=gnomad_r4",
        "id": "15-44598714-A-T",
        "variant": "15:44598714 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 44598714,
          "referenceAllele": "A",
          "start": 44598713
        }
      ],
      "hgvs": [
        "NC_000015.10:g.44598714A>T",
        "CM000677.2:g.44598714A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 44890912,
          "referenceAllele": "A",
          "start": 44890911
        }
      ],
      "hgvs": [
        "NC_000015.9:g.44890912A>T",
        "CM000677.1:g.44890912A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 42678204,
          "referenceAllele": "A",
          "start": 42678203
        }
      ],
      "hgvs": [
        "NC_000015.8:g.42678204A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69965,
          "referenceAllele": "T",
          "start": 69964
        }
      ],
      "hgvs": [
        "NG_008885.1:g.69965T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001280"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3809,
          "referenceAllele": "T",
          "start": 3808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000559511.6:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453246.2:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000453246.2:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682065.1:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507025.1:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000507025.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3926,
          "referenceAllele": "T",
          "start": 3925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682460.1:c.*229T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508334.1:n.*229T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3965,
          "referenceAllele": "T",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682495.1:c.*301T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507166.1:n.*301T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3639,
          "referenceAllele": "T",
          "start": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682669.1:c.3608T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507782.1:p.Val1203Asp",
        "hgvsWellDefined": "ENSP00000507782.1:p.Val1203Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3824,
          "referenceAllele": "T",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682788.1:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508089.1:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000508089.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3902,
          "referenceAllele": "T",
          "start": 3901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682915.1:c.3902T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507493.1:n.3902T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683121.1:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507557.1:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000507557.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3650,
          "referenceAllele": "T",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683186.1:c.*572T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507268.1:n.*572T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683496.1:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506968.1:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000506968.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3824,
          "referenceAllele": "T",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683734.1:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508319.1:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000508319.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2855,
          "referenceAllele": "T",
          "start": 2854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683753.1:n.2855T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683838.1:n.883T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3658,
          "referenceAllele": "T",
          "start": 3657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684038.1:c.*229T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507141.1:n.*229T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684235.1:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508295.1:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000508295.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3850,
          "referenceAllele": "T",
          "start": 3849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684676.1:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506948.1:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000506948.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3824,
          "referenceAllele": "T",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.12:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000261866.7:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.3809T>A"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.3809T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Val1270Asp"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Val1270Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3826,
          "referenceAllele": "T",
          "start": 3825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.11:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000261866.7:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3809,
          "referenceAllele": "T",
          "start": 3808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000427534.6:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396110.2:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000396110.2:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3837,
          "referenceAllele": "T",
          "start": 3836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000535302.6:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445278.2:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000445278.2:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "referenceAllele": "T",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000558093.1:n.423T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000558319.5:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453599.1:p.Val1270Asp",
        "hgvsWellDefined": "ENSP00000453599.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825947776",
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.1:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Val1270Asp",
        "hgvsWellDefined": "NP_001153699.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916055675",
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.3:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Val1270Asp",
        "hgvsWellDefined": "NP_079413.3:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3576,
          "referenceAllele": "T",
          "start": 3575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_005254695.3:c.3551T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254752.1:p.Val1184Asp",
        "hgvsWellDefined": "XP_005254752.1:p.Val1184Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720700.1:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720763.1:p.Val1270Asp",
        "hgvsWellDefined": "XP_006720763.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.2:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720764.1:p.Val1270Asp",
        "hgvsWellDefined": "XP_006720764.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3717,
          "endIntronDirection": "-",
          "endIntronOffset": 340,
          "referenceAllele": "T",
          "start": 3717,
          "startIntronDirection": "-",
          "startIntronOffset": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_011522093.1:c.3687-341T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520395.1:n.3687-341T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.1:n.3840T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.3:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720764.1:p.Val1270Asp",
        "hgvsWellDefined": "XP_006720764.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022634.1:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878123.1:p.Val1270Asp",
        "hgvsWellDefined": "XP_016878123.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022635.2:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878124.1:p.Val1270Asp",
        "hgvsWellDefined": "XP_016878124.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1649,
          "referenceAllele": "T",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022636.1:c.686T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878125.1:p.Val229Asp",
        "hgvsWellDefined": "XP_016878125.1:p.Val229Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3717,
          "endIntronDirection": "-",
          "endIntronOffset": 340,
          "referenceAllele": "T",
          "start": 3717,
          "startIntronDirection": "-",
          "startIntronOffset": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_001751402.1:n.3718-341T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3840,
          "referenceAllele": "T",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.2:n.3840T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916055675",
      "coordinates": [
        {
          "allele": "A",
          "end": 3824,
          "referenceAllele": "T",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.4:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Val1270Asp",
        "hgvsWellDefined": "NP_079413.3:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.3809T>A"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.3809T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Val1270Asp"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Val1270Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825947776",
      "coordinates": [
        {
          "allele": "A",
          "end": 3824,
          "referenceAllele": "T",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.3809T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Val1270Asp",
        "hgvsWellDefined": "NP_001153699.1:p.Val1270Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}