{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3085660919",
  "communityStandardTitle": [
    "NM_001244008.2(KIF1A):c.2840T= (p.Leu947=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587778791",
        "rs": 587778791
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2537503799",
        "rs": 2537503799
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 240757337,
          "referenceAllele": "A",
          "start": 240757336
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240757337A=",
        "CM000664.2:g.240757337A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 241696754,
          "referenceAllele": "A",
          "start": 241696753
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241696754A=",
        "CM000664.1:g.241696754A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 241345427,
          "referenceAllele": "A",
          "start": 241345426
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241345427A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67871,
          "referenceAllele": "T",
          "start": 67870
        }
      ],
      "hgvs": [
        "NG_029724.1:g.67871T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004610"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000320389.12:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322791.8:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3087,
          "referenceAllele": "T",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000404283.9:c.2840T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384231.5:p.Leu947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2998,
          "referenceAllele": "T",
          "start": 2997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000498729.9:c.2840T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438388.1:p.Leu947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757911",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498729.9:c.2840T="
          },
          "RefSeq": {
            "hgvs": "NM_001244008.2:c.2840T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438388.1:p.Leu947="
          },
          "RefSeq": {
            "hgvs": "NP_001230937.1:p.Leu947="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2705,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2705,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000647731.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498099.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000647885.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497739.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1793,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 1793,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648047.1:c.1793+1023T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497935.1:n.1793+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2964,
          "referenceAllele": "T",
          "start": 2963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648129.1:c.2813T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497293.1:p.Leu938="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2740,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2740,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648364.1:c.2582+1023T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498196.1:n.2582+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2733,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2733,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648680.1:c.2582+1023T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497586.1:n.2582+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649064.1:n.2713+1023T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2866,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2866,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649096.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497030.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 1852,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649190.1:n.1852+1023T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2808,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2808,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649306.1:c.2657+1023T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497678.1:n.2657+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2725,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2725,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650053.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497824.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2994,
          "referenceAllele": "T",
          "start": 2993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650130.1:c.2813T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498082.1:p.Leu938="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 1930,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650430.1:n.1930+1023T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2714,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000320389.11:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322791.7:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2840,
          "referenceAllele": "T",
          "start": 2839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000404283.7:c.2840T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384231.3:p.Leu947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3087,
          "referenceAllele": "T",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000498729.6:c.2840T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438388.1:p.Leu947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066721944",
      "coordinates": [
        {
          "allele": "T",
          "end": 3087,
          "referenceAllele": "T",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001244008.1:c.2840T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230937.1:p.Leu947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2615,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2615,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.6:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2998,
          "referenceAllele": "T",
          "start": 2997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247022.1:c.2840T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247079.1:p.Leu947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2998,
          "referenceAllele": "T",
          "start": 2997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247023.1:c.2840T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247080.1:p.Leu947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2971,
          "referenceAllele": "T",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247024.1:c.2813T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247081.1:p.Leu938="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2740,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2740,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247026.1:c.2582+1023T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247083.1:n.2582+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247027.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247084.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247028.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247085.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2971,
          "referenceAllele": "T",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_006712605.1:c.2813T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712668.1:p.Leu938="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3010,
          "referenceAllele": "T",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511364.1:c.2840T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509666.1:p.Leu947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2740,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2740,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511365.1:c.2582+1023T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509667.1:n.2582+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2177,
          "referenceAllele": "T",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511366.1:c.1835T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509668.1:p.Leu612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2000,
          "referenceAllele": "T",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511367.1:c.1835T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509669.1:p.Leu612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2829,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2829,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001320705.1:c.2582+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307634.1:n.2582+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2829,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2829,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330289.1:c.2582+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317218.1:n.2582+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2904,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2904,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330290.1:c.2657+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317219.1:n.2657+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2802,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2802,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.7:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2740,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2740,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001320705.2:c.2582+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307634.1:n.2582+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2740,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2740,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330289.2:c.2582+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317218.1:n.2582+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2815,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2815,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330290.2:c.2657+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317219.1:n.2657+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686854"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066721944",
      "coordinates": [
        {
          "allele": "T",
          "end": 2998,
          "referenceAllele": "T",
          "start": 2997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001244008.2:c.2840T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230937.1:p.Leu947="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498729.9:c.2840T="
          },
          "RefSeq": {
            "hgvs": "NM_001244008.2:c.2840T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438388.1:p.Leu947="
          },
          "RefSeq": {
            "hgvs": "NP_001230937.1:p.Leu947="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3073,
          "referenceAllele": "T",
          "start": 3072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379631.1:c.2915T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366560.1:p.Leu972="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "referenceAllele": "T",
          "start": 2946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379632.1:c.2789T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366561.1:p.Leu930="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2971,
          "referenceAllele": "T",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379633.1:c.2813T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366562.1:p.Leu938="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2815,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2815,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379634.1:c.2657+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366563.1:n.2657+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2841,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2841,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379635.1:c.2657+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366564.1:n.2657+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379636.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366565.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2788,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2788,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379637.1:c.2630+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366566.1:n.2630+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2740,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2740,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379638.1:c.2582+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366567.1:n.2582+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379639.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366568.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379640.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366569.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379641.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366570.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2971,
          "referenceAllele": "T",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379642.1:c.2813T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366571.1:p.Leu938="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2997,
          "referenceAllele": "T",
          "start": 2996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379645.1:c.2813T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366574.1:p.Leu938="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2815,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2815,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379646.1:c.2657+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366575.1:n.2657+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2788,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2788,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379648.1:c.2630+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366577.1:n.2630+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379649.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366578.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2739,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2739,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379650.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366579.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2787,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2787,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379651.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366580.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2679,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2679,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379653.1:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366582.1:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "endIntronDirection": "+",
          "endIntronOffset": 1023,
          "referenceAllele": "T",
          "start": 2713,
          "startIntronDirection": "+",
          "startIntronOffset": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.8:c.2555+1023T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:n.2555+1023T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727492"
    }
  ],
  "type": "nucleotide"
}