{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346502358",
  "communityStandardTitle": [
    "NM_014946.4(SPAST):c.1409A>C (p.Asp470Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=982476[alleleid]",
        "alleleId": 982476,
        "preferredName": "NM_014946.4(SPAST):c.1409A>C (p.Asp470Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/994980",
        "RCV": [
          "RCV001288790"
        ],
        "variationId": 994980
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.32362033A>C?assembly=hg19",
        "id": "chr2:g.32362033A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.32136964A>C?assembly=hg38",
        "id": "chr2:g.32136964A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908516",
        "rs": 121908516
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 32136964,
          "referenceAllele": "A",
          "start": 32136963
        }
      ],
      "hgvs": [
        "NC_000002.12:g.32136964A>C",
        "CM000664.2:g.32136964A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 32362033,
          "referenceAllele": "A",
          "start": 32362032
        }
      ],
      "hgvs": [
        "NC_000002.11:g.32362033A>C",
        "CM000664.1:g.32362033A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 32215537,
          "referenceAllele": "A",
          "start": 32215536
        }
      ],
      "hgvs": [
        "NC_000002.10:g.32215537A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78354,
          "referenceAllele": "A",
          "start": 78353
        }
      ],
      "hgvs": [
        "NG_008730.1:g.78354A>C",
        "LRG_714:g.78354A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001188"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1684,
          "referenceAllele": "A",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000704289.1:c.*1069A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515816.1:n.*1069A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1685,
          "referenceAllele": "A",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000315285.9:c.1409A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320885.3:p.Asp470Ala",
        "hgvsWellDefined": "ENSP00000320885.3:p.Asp470Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745978",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000315285.9:c.1409A>C"
          },
          "RefSeq": {
            "hgvs": "NM_014946.4:c.1409A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320885.3:p.Asp470Ala"
          },
          "RefSeq": {
            "hgvs": "NP_055761.2:p.Asp470Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1456,
          "referenceAllele": "A",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000621856.2:c.1406A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482496.2:p.Asp469Ala",
        "hgvsWellDefined": "ENSP00000482496.2:p.Asp469Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1146,
          "referenceAllele": "A",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000642281.1:c.1146A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1314,
          "referenceAllele": "A",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000642455.1:c.1310A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493827.1:p.Asp437Ala",
        "hgvsWellDefined": "ENSP00000493827.1:p.Asp437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1183,
          "referenceAllele": "A",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000642751.1:c.1183A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "A",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000642999.1:c.1151A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496589.1:p.Asp384Ala",
        "hgvsWellDefined": "ENSP00000496589.1:p.Asp384Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 144,
          "referenceAllele": "A",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000643327.1:c.481-145A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 989,
          "referenceAllele": "A",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000643334.1:c.989A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1285,
          "referenceAllele": "A",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000644408.1:c.1285A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767802"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1175,
          "referenceAllele": "A",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000644954.1:c.1055A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494312.1:p.Asp352Ala",
        "hgvsWellDefined": "ENSP00000494312.1:p.Asp352Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2146,
          "referenceAllele": "A",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000645159.1:n.2146A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 859,
          "referenceAllele": "A",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000645671.1:c.859A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 592,
          "endIntronDirection": "-",
          "endIntronOffset": 144,
          "referenceAllele": "A",
          "start": 592,
          "startIntronDirection": "-",
          "startIntronOffset": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000645730.1:c.593-145A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1055,
          "referenceAllele": "A",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000646082.1:c.1055A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1534,
          "referenceAllele": "A",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000646571.1:c.1313A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495015.1:p.Asp438Ala",
        "hgvsWellDefined": "ENSP00000495015.1:p.Asp438Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "A",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000647007.1:n.1101A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "A",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000647133.1:c.909A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1534,
          "referenceAllele": "A",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000315285.7:c.1409A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320885.3:p.Asp470Ala",
        "hgvsWellDefined": "ENSP00000320885.3:p.Asp470Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1534,
          "referenceAllele": "A",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000345662.5:c.1313A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340817.1:p.Asp438Ala",
        "hgvsWellDefined": "ENSP00000340817.1:p.Asp438Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1630,
          "referenceAllele": "A",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000615843.4:c.1409A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480893.1:p.Asp470Ala",
        "hgvsWellDefined": "ENSP00000480893.1:p.Asp470Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "A",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "ENST00000621856.1:c.1151A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482496.1:p.Asp384Ala",
        "hgvsWellDefined": "ENSP00000482496.1:p.Asp384Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139724215",
      "coordinates": [
        {
          "allele": "C",
          "end": 1630,
          "referenceAllele": "A",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_014946.3:c.1409A>C",
        "LRG_714t1:c.1409A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055761.2:p.Asp470Ala",
        "hgvsWellDefined": "NP_055761.2:p.Asp470Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830441168",
      "coordinates": [
        {
          "allele": "C",
          "end": 1534,
          "referenceAllele": "A",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_199436.1:c.1313A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_955468.1:p.Asp438Ala",
        "hgvsWellDefined": "NP_955468.1:p.Asp438Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1686,
          "referenceAllele": "A",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "XM_005264516.3:c.1406A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264573.1:p.Asp469Ala",
        "hgvsWellDefined": "XP_005264573.1:p.Asp469Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "A",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "XM_011533067.1:c.1409A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531369.1:p.Asp470Ala",
        "hgvsWellDefined": "XP_011531369.1:p.Asp470Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828119141",
      "coordinates": [
        {
          "allele": "C",
          "end": 1627,
          "referenceAllele": "A",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_001363823.1:c.1406A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350752.1:p.Asp469Ala",
        "hgvsWellDefined": "NP_001350752.1:p.Asp469Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828125313",
      "coordinates": [
        {
          "allele": "C",
          "end": 1531,
          "referenceAllele": "A",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_001363875.1:c.1310A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350804.1:p.Asp437Ala",
        "hgvsWellDefined": "NP_001350804.1:p.Asp437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1406,
          "referenceAllele": "A",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "XM_005264516.5:c.1406A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264573.1:p.Asp469Ala",
        "hgvsWellDefined": "XP_005264573.1:p.Asp469Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1690,
          "referenceAllele": "A",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "XM_011533067.2:c.1409A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531369.1:p.Asp470Ala",
        "hgvsWellDefined": "XP_011531369.1:p.Asp470Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1594,
          "referenceAllele": "A",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "XM_017004778.2:c.1313A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860267.1:p.Asp438Ala",
        "hgvsWellDefined": "XP_016860267.1:p.Asp438Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828119141",
      "coordinates": [
        {
          "allele": "C",
          "end": 1682,
          "referenceAllele": "A",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_001363823.2:c.1406A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350752.1:p.Asp469Ala",
        "hgvsWellDefined": "NP_001350752.1:p.Asp469Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828125313",
      "coordinates": [
        {
          "allele": "C",
          "end": 1586,
          "referenceAllele": "A",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_001363875.2:c.1310A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350804.1:p.Asp437Ala",
        "hgvsWellDefined": "NP_001350804.1:p.Asp437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720806"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828733463",
      "coordinates": [
        {
          "allele": "C",
          "end": 1589,
          "referenceAllele": "A",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_001377959.1:c.1313A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364888.1:p.Asp438Ala",
        "hgvsWellDefined": "NP_001364888.1:p.Asp438Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139724215",
      "coordinates": [
        {
          "allele": "C",
          "end": 1685,
          "referenceAllele": "A",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_014946.4:c.1409A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055761.2:p.Asp470Ala",
        "hgvsWellDefined": "NP_055761.2:p.Asp470Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728018",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000315285.9:c.1409A>C"
          },
          "RefSeq": {
            "hgvs": "NM_014946.4:c.1409A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320885.3:p.Asp470Ala"
          },
          "RefSeq": {
            "hgvs": "NP_055761.2:p.Asp470Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830441168",
      "coordinates": [
        {
          "allele": "C",
          "end": 1589,
          "referenceAllele": "A",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011233",
      "geneNCBI_id": 6683,
      "geneSymbol": "SPAST",
      "hgvs": [
        "NM_199436.2:c.1313A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_955468.1:p.Asp438Ala",
        "hgvsWellDefined": "NP_955468.1:p.Asp438Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729993"
    }
  ],
  "type": "nucleotide"
}