{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA236139",
  "communityStandardTitle": [
    "NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188961[alleleid]",
        "alleleId": 188961,
        "preferredName": "NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191158",
        "RCV": [
          "RCV000171342",
          "RCV000626085",
          "RCV000639785",
          "RCV001391594"
        ],
        "variationId": 191158
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-241727608-G-A",
        "id": "2-241727608-G-A",
        "variant": "2:241727608 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241727608G>A?assembly=hg19",
        "id": "chr2:g.241727608G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240788191G>A?assembly=hg38",
        "id": "chr2:g.240788191G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778224699",
        "rs": 778224699
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-241727608-G-A?dataset=gnomad_r2_1",
        "id": "2-241727608-G-A",
        "variant": "2:241727608 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240788191-G-A?dataset=gnomad_r3",
        "id": "2-240788191-G-A",
        "variant": "2:240788191 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240788191-G-A?dataset=gnomad_r4",
        "id": "2-240788191-G-A",
        "variant": "2:240788191 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 240788191,
          "referenceAllele": "G",
          "start": 240788190
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240788191G>A",
        "CM000664.2:g.240788191G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 241727608,
          "referenceAllele": "G",
          "start": 241727607
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241727608G>A",
        "CM000664.1:g.241727608G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 241376281,
          "referenceAllele": "G",
          "start": 241376280
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241376281G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37017,
          "referenceAllele": "C",
          "start": 37016
        }
      ],
      "hgvs": [
        "NG_029724.1:g.37017C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004610"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000320389.12:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322791.8:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000322791.8:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000404283.9:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384231.5:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000384231.5:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 313,
          "referenceAllele": "C",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000428768.2:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395443.2:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000395443.2:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000498729.9:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438388.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000438388.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757911",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498729.9:c.223C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001244008.2:c.223C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438388.1:p.Arg75Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001230937.1:p.Arg75Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000647572.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497953.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000497953.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000647731.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498099.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000498099.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000647885.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497739.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000497739.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648129.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497293.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000497293.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648364.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498196.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000498196.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648680.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497586.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000497586.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649064.1:n.381C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649096.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497030.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000497030.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649306.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497678.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000497678.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649381.1:n.374C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "C",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650053.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497824.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000497824.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650130.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498082.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000498082.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650542.1:n.379C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000675314.1:c.246C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000320389.11:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322791.7:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000322791.7:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "C",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000404283.7:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384231.3:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000384231.3:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000498729.6:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438388.1:p.Arg75Trp",
        "hgvsWellDefined": "ENSP00000438388.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA236140",
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001244008.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230937.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001230937.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA236141",
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.6:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Arg75Trp",
        "hgvsWellDefined": "NP_004312.2:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247022.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247079.1:p.Arg75Trp",
        "hgvsWellDefined": "XP_005247079.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247023.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247080.1:p.Arg75Trp",
        "hgvsWellDefined": "XP_005247080.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247024.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247081.1:p.Arg75Trp",
        "hgvsWellDefined": "XP_005247081.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247026.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247083.1:p.Arg75Trp",
        "hgvsWellDefined": "XP_005247083.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247027.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247084.1:p.Arg75Trp",
        "hgvsWellDefined": "XP_005247084.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247028.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247085.1:p.Arg75Trp",
        "hgvsWellDefined": "XP_005247085.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_006712605.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712668.1:p.Arg75Trp",
        "hgvsWellDefined": "XP_006712668.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "C",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511364.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509666.1:p.Arg75Trp",
        "hgvsWellDefined": "XP_011509666.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511365.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509667.1:p.Arg75Trp",
        "hgvsWellDefined": "XP_011509667.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827052451",
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001320705.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307634.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001307634.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827293925",
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330289.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317218.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001317218.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827296675",
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330290.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317219.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001317219.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA236141",
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.7:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Arg75Trp",
        "hgvsWellDefined": "NP_004312.2:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827052451",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001320705.2:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307634.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001307634.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827293925",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330289.2:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317218.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001317218.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827296675",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330290.2:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317219.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001317219.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686854"
    },
    {
      "@id": "http://reg.genome.network/allele/PA236140",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001244008.2:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230937.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001230937.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498729.9:c.223C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001244008.2:c.223C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438388.1:p.Arg75Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001230937.1:p.Arg75Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828844171",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379631.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366560.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366560.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828846034",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379632.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366561.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366561.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828848439",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379633.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366562.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366562.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828850260",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379634.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366563.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366563.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828852044",
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379635.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366564.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366564.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828853826",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379636.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366565.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366565.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828855599",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379637.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366566.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366566.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828857383",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379638.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366567.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366567.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828859141",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379639.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366568.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366568.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828860915",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379640.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366569.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366569.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828862684",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379641.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366570.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366570.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828864446",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379642.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366571.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366571.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828866266",
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379645.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366574.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366574.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828868080",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379646.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366575.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366575.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828869569",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379648.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366577.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366577.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828871343",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379649.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366578.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366578.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828873114",
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379650.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366579.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366579.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828874888",
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379651.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366580.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366580.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828876660",
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379653.1:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366582.1:p.Arg75Trp",
        "hgvsWellDefined": "NP_001366582.1:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA236141",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.8:c.223C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Arg75Trp",
        "hgvsWellDefined": "NP_004312.2:p.Arg75Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727492"
    }
  ],
  "type": "nucleotide"
}