{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2030994810",
  "communityStandardTitle": [
    "NM_198578.4(LRRK2):c.4883G= (p.Arg1628=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/33949390",
        "rs": 33949390
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 40320043,
          "referenceAllele": "G",
          "start": 40320042
        }
      ],
      "hgvs": [
        "NC_000012.12:g.40320043G=",
        "CM000674.2:g.40320043G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 40713845,
          "referenceAllele": "G",
          "start": 40713844
        }
      ],
      "hgvs": [
        "NC_000012.11:g.40713845G=",
        "CM000674.1:g.40713845G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 39000112,
          "referenceAllele": "G",
          "start": 39000111
        }
      ],
      "hgvs": [
        "NC_000012.10:g.39000112G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 100033,
          "referenceAllele": "G",
          "start": 100032
        }
      ],
      "hgvs": [
        "NG_011709.1:g.100033G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001918"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5018,
          "referenceAllele": "G",
          "start": 5017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000298910.12:c.4883G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298910.7:p.Arg1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298910.12:c.4883G="
          },
          "RefSeq": {
            "hgvs": "NM_198578.4:c.4883G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298910.7:p.Arg1628="
          },
          "RefSeq": {
            "hgvs": "NP_940980.4:p.Arg1628="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5139,
          "referenceAllele": "G",
          "start": 5138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000679360.1:c.*3792G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505368.1:n.*3792G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778993"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000679532.1:c.657G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 328,
          "referenceAllele": "G",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680018.1:c.328G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505347.1:n.328G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680422.1:c.528G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 990,
          "referenceAllele": "G",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680425.1:c.183-991G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506459.1:n.183-991G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 472,
          "endIntronDirection": "-",
          "endIntronOffset": 990,
          "referenceAllele": "G",
          "start": 472,
          "startIntronDirection": "-",
          "startIntronOffset": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680453.1:c.473-991G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4680,
          "referenceAllele": "G",
          "start": 4679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680790.1:c.4628G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505335.1:p.Arg1543="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000681136.1:n.867G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000681696.1:c.566G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505871.1:p.Arg189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4941,
          "referenceAllele": "G",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000298910.11:c.4883G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298910.7:p.Arg1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2179,
          "referenceAllele": "G",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000430804.5:c.2179G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291324"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1564,
          "referenceAllele": "G",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000479187.5:n.1564G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "referenceAllele": "G",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000481256.1:n.542G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5004,
          "referenceAllele": "G",
          "start": 5003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "NM_198578.3:c.4883G="
      ],
      "proteinEffect": {
        "hgvs": "NP_940980.3:p.Arg1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4999,
          "referenceAllele": "G",
          "start": 4998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_005268629.2:c.4883G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268686.1:p.Arg1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4999,
          "referenceAllele": "G",
          "start": 4998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537877.1:c.4883G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536179.1:p.Arg1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4999,
          "referenceAllele": "G",
          "start": 4998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537878.1:c.4883G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536180.1:p.Arg1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4217,
          "referenceAllele": "G",
          "start": 4216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537879.1:c.3680G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536181.1:p.Arg1227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4943,
          "endIntronDirection": "-",
          "endIntronOffset": 990,
          "referenceAllele": "G",
          "start": 4943,
          "startIntronDirection": "-",
          "startIntronOffset": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537881.1:c.4828-991G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536183.1:n.4828-991G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5125,
          "referenceAllele": "G",
          "start": 5124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_005268629.4:c.4883G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268686.1:p.Arg1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5125,
          "referenceAllele": "G",
          "start": 5124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537877.3:c.4883G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536179.1:p.Arg1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5069,
          "endIntronDirection": "-",
          "endIntronOffset": 990,
          "referenceAllele": "G",
          "start": 5069,
          "startIntronDirection": "-",
          "startIntronOffset": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537881.3:c.4828-991G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536183.1:n.4828-991G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1948,
          "referenceAllele": "G",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_017018787.1:c.1799G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874276.1:p.Arg600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_017018788.2:c.1145G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874277.1:p.Arg382="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3772,
          "referenceAllele": "G",
          "start": 3771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_024448833.1:c.3680G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304601.1:p.Arg1227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5251,
          "referenceAllele": "G",
          "start": 5250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XR_001748574.2:n.5251G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079276413",
      "coordinates": [
        {
          "allele": "G",
          "end": 5018,
          "referenceAllele": "G",
          "start": 5017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "NM_198578.4:c.4883G="
      ],
      "proteinEffect": {
        "hgvs": "NP_940980.4:p.Arg1628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673161",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298910.12:c.4883G="
          },
          "RefSeq": {
            "hgvs": "NM_198578.4:c.4883G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298910.7:p.Arg1628="
          },
          "RefSeq": {
            "hgvs": "NP_940980.4:p.Arg1628="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}