{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10584193",
  "communityStandardTitle": [
    "NM_001244008.2(KIF1A):c.1477G>A (p.Gly493Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244357[alleleid]",
        "alleleId": 244357,
        "preferredName": "NM_001244008.2(KIF1A):c.1477G>A (p.Gly493Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/245898",
        "RCV": [
          "RCV000235640"
        ],
        "variationId": 245898
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241708570C>T?assembly=hg19",
        "id": "chr2:g.241708570C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240769153C>T?assembly=hg38",
        "id": "chr2:g.240769153C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879253991",
        "rs": 879253991
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 240769153,
          "referenceAllele": "C",
          "start": 240769152
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240769153C>T",
        "CM000664.2:g.240769153C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 241708570,
          "referenceAllele": "C",
          "start": 241708569
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241708570C>T",
        "CM000664.1:g.241708570C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 241357243,
          "referenceAllele": "C",
          "start": 241357242
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241357243C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56055,
          "referenceAllele": "G",
          "start": 56054
        }
      ],
      "hgvs": [
        "NG_029724.1:g.56055G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004610"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000320389.12:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322791.8:p.Gly484Ser",
        "hgvsWellDefined": "ENSP00000322791.8:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000404283.9:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384231.5:p.Gly493Ser",
        "hgvsWellDefined": "ENSP00000384231.5:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000498729.9:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438388.1:p.Gly493Ser",
        "hgvsWellDefined": "ENSP00000438388.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757911",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498729.9:c.1477G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001244008.2:c.1477G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438388.1:p.Gly493Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001230937.1:p.Gly493Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1600,
          "referenceAllele": "G",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000647731.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498099.1:p.Gly484Ser",
        "hgvsWellDefined": "ENSP00000498099.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000647885.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497739.1:p.Gly484Ser",
        "hgvsWellDefined": "ENSP00000497739.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 688,
          "referenceAllele": "G",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648047.1:c.688G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497935.1:p.Gly230Ser",
        "hgvsWellDefined": "ENSP00000497935.1:p.Gly230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1601,
          "referenceAllele": "G",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648129.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497293.1:p.Gly484Ser",
        "hgvsWellDefined": "ENSP00000497293.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648364.1:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498196.1:p.Gly493Ser",
        "hgvsWellDefined": "ENSP00000498196.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1628,
          "referenceAllele": "G",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648680.1:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497586.1:p.Gly493Ser",
        "hgvsWellDefined": "ENSP00000497586.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649064.1:n.1608G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649096.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497030.1:p.Gly484Ser",
        "hgvsWellDefined": "ENSP00000497030.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649190.1:n.747G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1703,
          "referenceAllele": "G",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649306.1:c.1552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497678.1:p.Gly518Ser",
        "hgvsWellDefined": "ENSP00000497678.1:p.Gly518Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770466"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1703,
          "referenceAllele": "G",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649381.1:n.1703G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1620,
          "referenceAllele": "G",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650053.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497824.1:p.Gly484Ser",
        "hgvsWellDefined": "ENSP00000497824.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1631,
          "referenceAllele": "G",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650130.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498082.1:p.Gly484Ser",
        "hgvsWellDefined": "ENSP00000498082.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 825,
          "referenceAllele": "G",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650430.1:n.825G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1609,
          "referenceAllele": "G",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000320389.11:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322791.7:p.Gly484Ser",
        "hgvsWellDefined": "ENSP00000322791.7:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1477,
          "referenceAllele": "G",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000404283.7:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384231.3:p.Gly493Ser",
        "hgvsWellDefined": "ENSP00000384231.3:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000498729.6:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438388.1:p.Gly493Ser",
        "hgvsWellDefined": "ENSP00000438388.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645476016",
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001244008.1:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230937.1:p.Gly493Ser",
        "hgvsWellDefined": "NP_001230937.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829527803",
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "referenceAllele": "G",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.6:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Gly484Ser",
        "hgvsWellDefined": "NP_004312.2:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247022.1:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247079.1:p.Gly493Ser",
        "hgvsWellDefined": "XP_005247079.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247023.1:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247080.1:p.Gly493Ser",
        "hgvsWellDefined": "XP_005247080.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247024.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247081.1:p.Gly484Ser",
        "hgvsWellDefined": "XP_005247081.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247026.1:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247083.1:p.Gly493Ser",
        "hgvsWellDefined": "XP_005247083.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247027.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247084.1:p.Gly484Ser",
        "hgvsWellDefined": "XP_005247084.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247028.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247085.1:p.Gly484Ser",
        "hgvsWellDefined": "XP_005247085.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_006712605.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712668.1:p.Gly484Ser",
        "hgvsWellDefined": "XP_006712668.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1647,
          "referenceAllele": "G",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511364.1:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509666.1:p.Gly493Ser",
        "hgvsWellDefined": "XP_011509666.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511365.1:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509667.1:p.Gly493Ser",
        "hgvsWellDefined": "XP_011509667.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511366.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509668.1:p.Gly158Ser",
        "hgvsWellDefined": "XP_011509668.1:p.Gly158Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511367.1:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509669.1:p.Gly158Ser",
        "hgvsWellDefined": "XP_011509669.1:p.Gly158Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827052924",
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001320705.1:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307634.1:p.Gly493Ser",
        "hgvsWellDefined": "NP_001307634.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827294646",
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330289.1:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317218.1:p.Gly493Ser",
        "hgvsWellDefined": "NP_001317218.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027911",
      "coordinates": [
        {
          "allele": "A",
          "end": 1799,
          "referenceAllele": "G",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330290.1:c.1552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317219.1:p.Gly518Ser",
        "hgvsWellDefined": "NP_001317219.1:p.Gly518Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829527803",
      "coordinates": [
        {
          "allele": "A",
          "end": 1697,
          "referenceAllele": "G",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.7:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Gly484Ser",
        "hgvsWellDefined": "NP_004312.2:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827052924",
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001320705.2:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307634.1:p.Gly493Ser",
        "hgvsWellDefined": "NP_001307634.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827294646",
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330289.2:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317218.1:p.Gly493Ser",
        "hgvsWellDefined": "NP_001317218.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027911",
      "coordinates": [
        {
          "allele": "A",
          "end": 1710,
          "referenceAllele": "G",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330290.2:c.1552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317219.1:p.Gly518Ser",
        "hgvsWellDefined": "NP_001317219.1:p.Gly518Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686854"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645476016",
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001244008.2:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230937.1:p.Gly493Ser",
        "hgvsWellDefined": "NP_001230937.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498729.9:c.1477G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001244008.2:c.1477G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438388.1:p.Gly493Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001230937.1:p.Gly493Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828844819",
      "coordinates": [
        {
          "allele": "A",
          "end": 1710,
          "referenceAllele": "G",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379631.1:c.1552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366560.1:p.Gly518Ser",
        "hgvsWellDefined": "NP_001366560.1:p.Gly518Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828846897",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379632.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366561.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366561.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828848911",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379633.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366562.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366562.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828850744",
      "coordinates": [
        {
          "allele": "A",
          "end": 1710,
          "referenceAllele": "G",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379634.1:c.1552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366563.1:p.Gly518Ser",
        "hgvsWellDefined": "NP_001366563.1:p.Gly518Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828852527",
      "coordinates": [
        {
          "allele": "A",
          "end": 1736,
          "referenceAllele": "G",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379635.1:c.1552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366564.1:p.Gly518Ser",
        "hgvsWellDefined": "NP_001366564.1:p.Gly518Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828854300",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379636.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366565.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366565.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828856082",
      "coordinates": [
        {
          "allele": "A",
          "end": 1683,
          "referenceAllele": "G",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379637.1:c.1525G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366566.1:p.Gly509Ser",
        "hgvsWellDefined": "NP_001366566.1:p.Gly509Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828857855",
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379638.1:c.1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366567.1:p.Gly493Ser",
        "hgvsWellDefined": "NP_001366567.1:p.Gly493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828859614",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379639.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366568.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366568.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828861387",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379640.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366569.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366569.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828863156",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379641.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366570.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366570.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828864918",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379642.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366571.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366571.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828866738",
      "coordinates": [
        {
          "allele": "A",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379645.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366574.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366574.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573076687",
      "coordinates": [
        {
          "allele": "A",
          "end": 1710,
          "referenceAllele": "G",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379646.1:c.1552G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366575.1:p.Gly518Ser",
        "hgvsWellDefined": "NP_001366575.1:p.Gly518Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828870052",
      "coordinates": [
        {
          "allele": "A",
          "end": 1683,
          "referenceAllele": "G",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379648.1:c.1525G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366577.1:p.Gly509Ser",
        "hgvsWellDefined": "NP_001366577.1:p.Gly509Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828871816",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379649.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366578.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366578.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828873588",
      "coordinates": [
        {
          "allele": "A",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379650.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366579.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366579.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828875359",
      "coordinates": [
        {
          "allele": "A",
          "end": 1682,
          "referenceAllele": "G",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379651.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366580.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366580.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828877132",
      "coordinates": [
        {
          "allele": "A",
          "end": 1574,
          "referenceAllele": "G",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379653.1:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366582.1:p.Gly484Ser",
        "hgvsWellDefined": "NP_001366582.1:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829527803",
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.8:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Gly484Ser",
        "hgvsWellDefined": "NP_004312.2:p.Gly484Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727492"
    }
  ],
  "type": "nucleotide"
}