{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351297756",
  "communityStandardTitle": [
    "NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=857367[alleleid]",
        "alleleId": 857367,
        "preferredName": "NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/869126",
        "RCV": [
          "RCV001078155"
        ],
        "variationId": 869126
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241715306C>G?assembly=hg19",
        "id": "chr2:g.241715306C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240775889C>G?assembly=hg38",
        "id": "chr2:g.240775889C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793161",
        "rs": 1064793161
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 240775889,
          "referenceAllele": "C",
          "start": 240775888
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240775889C>G",
        "CM000664.2:g.240775889C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 241715306,
          "referenceAllele": "C",
          "start": 241715305
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241715306C>G",
        "CM000664.1:g.241715306C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 241363979,
          "referenceAllele": "C",
          "start": 241363978
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241363979C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49319,
          "referenceAllele": "G",
          "start": 49318
        }
      ],
      "hgvs": [
        "NG_029724.1:g.49319G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004610"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000320389.12:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322791.8:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000322791.8:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000404283.9:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384231.5:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000384231.5:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1010,
          "referenceAllele": "G",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000428768.2:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395443.2:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000395443.2:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000498729.9:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438388.1:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000438388.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757911",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498729.9:c.920G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001244008.2:c.920G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438388.1:p.Arg307Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001230937.1:p.Arg307Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000647731.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498099.1:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000498099.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000647885.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497739.1:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000497739.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769669"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56,
          "referenceAllele": "G",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648047.1:c.56G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497935.1:p.Arg19Pro",
        "hgvsWellDefined": "ENSP00000497935.1:p.Arg19Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648129.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497293.1:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000497293.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648364.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498196.1:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000498196.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "referenceAllele": "G",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648534.1:n.113G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648680.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497586.1:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000497586.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "referenceAllele": "G",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000648854.1:n.182G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649064.1:n.1078G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1231,
          "referenceAllele": "G",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649096.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497030.1:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000497030.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649190.1:n.190G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649306.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497678.1:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000497678.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000649381.1:n.1071G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650053.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497824.1:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000497824.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650130.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498082.1:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000498082.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650430.1:n.295G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000650542.1:n.1076G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "referenceAllele": "G",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000674607.1:c.38G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501825.1:p.Arg13Pro",
        "hgvsWellDefined": "ENSP00000501825.1:p.Arg13Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "referenceAllele": "G",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000674958.1:n.59G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56,
          "referenceAllele": "G",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000676130.1:n.56G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "referenceAllele": "G",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000676135.1:n.38G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1079,
          "referenceAllele": "G",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000320389.11:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322791.7:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000322791.7:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 920,
          "referenceAllele": "G",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000404283.7:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384231.3:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000384231.3:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000428768.1:c.342G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS290352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "ENST00000498729.6:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438388.1:p.Arg307Pro",
        "hgvsWellDefined": "ENSP00000438388.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826349096",
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001244008.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230937.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001230937.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139722145",
      "coordinates": [
        {
          "allele": "C",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.6:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Arg307Pro",
        "hgvsWellDefined": "NP_004312.2:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247022.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247079.1:p.Arg307Pro",
        "hgvsWellDefined": "XP_005247079.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247023.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247080.1:p.Arg307Pro",
        "hgvsWellDefined": "XP_005247080.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247024.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247081.1:p.Arg307Pro",
        "hgvsWellDefined": "XP_005247081.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247026.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247083.1:p.Arg307Pro",
        "hgvsWellDefined": "XP_005247083.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247027.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247084.1:p.Arg307Pro",
        "hgvsWellDefined": "XP_005247084.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_005247028.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247085.1:p.Arg307Pro",
        "hgvsWellDefined": "XP_005247085.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_006712605.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712668.1:p.Arg307Pro",
        "hgvsWellDefined": "XP_006712668.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511364.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509666.1:p.Arg307Pro",
        "hgvsWellDefined": "XP_011509666.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511365.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509667.1:p.Arg307Pro",
        "hgvsWellDefined": "XP_011509667.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511366.1:c.-59G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509668.1:n.-59G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107,
          "referenceAllele": "G",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "XM_011511367.1:c.-59G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509669.1:n.-59G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827052740",
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001320705.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307634.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001307634.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827294356",
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330289.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317218.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001317218.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827297136",
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330290.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317219.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001317219.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139722145",
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.7:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Arg307Pro",
        "hgvsWellDefined": "NP_004312.2:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827052740",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001320705.2:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307634.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001307634.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827294356",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330289.2:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317218.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001317218.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827297136",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001330290.2:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317219.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001317219.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686854"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826349096",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001244008.2:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230937.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001230937.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498729.9:c.920G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001244008.2:c.920G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438388.1:p.Arg307Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001230937.1:p.Arg307Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828844566",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379631.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366560.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366560.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828846516",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379632.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366561.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366561.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828848728",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379633.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366562.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366562.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828850548",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379634.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366563.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366563.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828852333",
      "coordinates": [
        {
          "allele": "C",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379635.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366564.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366564.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828854116",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379636.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366565.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366565.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828855888",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379637.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366566.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366566.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828857673",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379638.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366567.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366567.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828859433",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379639.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366568.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366568.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828861204",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379640.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366569.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366569.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828862972",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379641.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366570.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366570.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828864736",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379642.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366571.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366571.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828866557",
      "coordinates": [
        {
          "allele": "C",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379645.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366574.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366574.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828868370",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379646.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366575.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366575.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828869857",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379648.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366577.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366577.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828871633",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379649.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366578.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366578.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828873404",
      "coordinates": [
        {
          "allele": "C",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379650.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366579.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366579.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828875177",
      "coordinates": [
        {
          "allele": "C",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379651.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366580.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366580.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828876947",
      "coordinates": [
        {
          "allele": "C",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_001379653.1:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366582.1:p.Arg307Pro",
        "hgvsWellDefined": "NP_001366582.1:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139722145",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000888",
      "geneNCBI_id": 547,
      "geneSymbol": "KIF1A",
      "hgvs": [
        "NM_004321.8:c.920G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004312.2:p.Arg307Pro",
        "hgvsWellDefined": "NP_004312.2:p.Arg307Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727492"
    }
  ],
  "type": "nucleotide"
}