{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1339269634",
  "communityStandardTitle": [
    "NM_001244008.2(KIF1A):c.2979C= (p.Ala993=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116297894",
        "rs": 116297894
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 240747320,
          "referenceAllele": "G",
          "start": 240747319
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240747320G=",
        "CM000664.2:g.240747320G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 241686737,
          "referenceAllele": "G",
          "start": 241686736
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241686737G=",
        "CM000664.1:g.241686737G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 241335410,
          "referenceAllele": "G",
          "start": 241335409
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241335410G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77888,
          "referenceAllele": "C",
          "start": 77887
        }
      ],
      "hgvs": [
        "NG_029724.1:g.77888C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004610"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000320389.12:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322791.8:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3226,
          "referenceAllele": "C",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000404283.9:c.2979C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384231.5:p.Ala993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3137,
          "referenceAllele": "C",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000498729.9:c.2979C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438388.1:p.Ala993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757911",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498729.9:c.2979C="
          },
          "RefSeq": {
            "hgvs": "NM_001244008.2:c.2979C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438388.1:p.Ala993="
          },
          "RefSeq": {
            "hgvs": "NP_001230937.1:p.Ala993="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2826,
          "referenceAllele": "C",
          "start": 2825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000647731.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498099.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000647885.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497739.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769669"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1914,
          "referenceAllele": "C",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648047.1:c.1914C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497935.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3103,
          "referenceAllele": "C",
          "start": 3102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648129.1:c.2952C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497293.1:p.Ala984="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2861,
          "referenceAllele": "C",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648364.1:c.2703C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498196.1:p.Ala901="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2854,
          "referenceAllele": "C",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648680.1:c.2703C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497586.1:p.Ala901="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649064.1:n.2834C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2987,
          "referenceAllele": "C",
          "start": 2986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649096.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497030.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649190.1:n.1973C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2929,
          "referenceAllele": "C",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649306.1:c.2778C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497678.1:p.Ala926="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2846,
          "referenceAllele": "C",
          "start": 2845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650053.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497824.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3133,
          "referenceAllele": "C",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650130.1:c.2952C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498082.1:p.Ala984="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2051,
          "referenceAllele": "C",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650430.1:n.2051C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2,
          "referenceAllele": "C",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000674577.1:n.2C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2835,
          "referenceAllele": "C",
          "start": 2834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000320389.11:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322791.7:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2979,
          "referenceAllele": "C",
          "start": 2978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000404283.7:c.2979C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384231.3:p.Ala993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56,
          "referenceAllele": "C",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000415042.1:c.56C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS283804"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3226,
          "referenceAllele": "C",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000498729.6:c.2979C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438388.1:p.Ala993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826350296",
      "coordinates": [
        {
          "allele": "C",
          "end": 3226,
          "referenceAllele": "C",
          "start": 3225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001244008.1:c.2979C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230937.1:p.Ala993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829528569",
      "coordinates": [
        {
          "allele": "C",
          "end": 2736,
          "referenceAllele": "C",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.6:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3137,
          "referenceAllele": "C",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247022.1:c.2979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247079.1:p.Ala993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3137,
          "referenceAllele": "C",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247023.1:c.2979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247080.1:p.Ala993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3110,
          "referenceAllele": "C",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247024.1:c.2952C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247081.1:p.Ala984="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2861,
          "referenceAllele": "C",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247026.1:c.2703C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247083.1:p.Ala901="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247027.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247084.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247028.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247085.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3110,
          "referenceAllele": "C",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_006712605.1:c.2952C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712668.1:p.Ala984="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3149,
          "referenceAllele": "C",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511364.1:c.2979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509666.1:p.Ala993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2861,
          "referenceAllele": "C",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511365.1:c.2703C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509667.1:p.Ala901="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "referenceAllele": "C",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511366.1:c.1974C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509668.1:p.Ala658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2139,
          "referenceAllele": "C",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511367.1:c.1974C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509669.1:p.Ala658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827053290",
      "coordinates": [
        {
          "allele": "C",
          "end": 2950,
          "referenceAllele": "C",
          "start": 2949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001320705.1:c.2703C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307634.1:p.Ala901="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827295196",
      "coordinates": [
        {
          "allele": "C",
          "end": 2950,
          "referenceAllele": "C",
          "start": 2949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330289.1:c.2703C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317218.1:p.Ala901="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827297990",
      "coordinates": [
        {
          "allele": "C",
          "end": 3025,
          "referenceAllele": "C",
          "start": 3024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330290.1:c.2778C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317219.1:p.Ala926="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829528569",
      "coordinates": [
        {
          "allele": "C",
          "end": 2923,
          "referenceAllele": "C",
          "start": 2922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.7:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827053290",
      "coordinates": [
        {
          "allele": "C",
          "end": 2861,
          "referenceAllele": "C",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001320705.2:c.2703C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307634.1:p.Ala901="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827295196",
      "coordinates": [
        {
          "allele": "C",
          "end": 2861,
          "referenceAllele": "C",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330289.2:c.2703C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317218.1:p.Ala901="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827297990",
      "coordinates": [
        {
          "allele": "C",
          "end": 2936,
          "referenceAllele": "C",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330290.2:c.2778C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317219.1:p.Ala926="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686854"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826350296",
      "coordinates": [
        {
          "allele": "C",
          "end": 3137,
          "referenceAllele": "C",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001244008.2:c.2979C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230937.1:p.Ala993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498729.9:c.2979C="
          },
          "RefSeq": {
            "hgvs": "NM_001244008.2:c.2979C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438388.1:p.Ala993="
          },
          "RefSeq": {
            "hgvs": "NP_001230937.1:p.Ala993="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828845303",
      "coordinates": [
        {
          "allele": "C",
          "end": 3212,
          "referenceAllele": "C",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379631.1:c.3054C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366560.1:p.Ala1018="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828847509",
      "coordinates": [
        {
          "allele": "C",
          "end": 3086,
          "referenceAllele": "C",
          "start": 3085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379632.1:c.2928C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366561.1:p.Ala976="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828849327",
      "coordinates": [
        {
          "allele": "C",
          "end": 3110,
          "referenceAllele": "C",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379633.1:c.2952C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366562.1:p.Ala984="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828851109",
      "coordinates": [
        {
          "allele": "C",
          "end": 2936,
          "referenceAllele": "C",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379634.1:c.2778C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366563.1:p.Ala926="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828852893",
      "coordinates": [
        {
          "allele": "C",
          "end": 2962,
          "referenceAllele": "C",
          "start": 2961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379635.1:c.2778C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366564.1:p.Ala926="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828854667",
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379636.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366565.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828856450",
      "coordinates": [
        {
          "allele": "C",
          "end": 2909,
          "referenceAllele": "C",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379637.1:c.2751C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366566.1:p.Ala917="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828858223",
      "coordinates": [
        {
          "allele": "C",
          "end": 2861,
          "referenceAllele": "C",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379638.1:c.2703C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366567.1:p.Ala901="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828859980",
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379639.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366568.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828861752",
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379640.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366569.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828863523",
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379641.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366570.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828865333",
      "coordinates": [
        {
          "allele": "C",
          "end": 3110,
          "referenceAllele": "C",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379642.1:c.2952C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366571.1:p.Ala984="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828867153",
      "coordinates": [
        {
          "allele": "C",
          "end": 3136,
          "referenceAllele": "C",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379645.1:c.2952C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366574.1:p.Ala984="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828868666",
      "coordinates": [
        {
          "allele": "C",
          "end": 2936,
          "referenceAllele": "C",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379646.1:c.2778C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366575.1:p.Ala926="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828870417",
      "coordinates": [
        {
          "allele": "C",
          "end": 2909,
          "referenceAllele": "C",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379648.1:c.2751C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366577.1:p.Ala917="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828872183",
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379649.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366578.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828873954",
      "coordinates": [
        {
          "allele": "C",
          "end": 2860,
          "referenceAllele": "C",
          "start": 2859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379650.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366579.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828875727",
      "coordinates": [
        {
          "allele": "C",
          "end": 2908,
          "referenceAllele": "C",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379651.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366580.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828877498",
      "coordinates": [
        {
          "allele": "C",
          "end": 2800,
          "referenceAllele": "C",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379653.1:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366582.1:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829528569",
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.8:c.2676C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Ala892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727492"
    }
  ],
  "type": "nucleotide"
}