{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1677925157",
  "communityStandardTitle": [
    "NM_004562.3(PRKN):c.245C= (p.Ala82=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/55774500",
        "rs": 55774500
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 162262692,
          "referenceAllele": "G",
          "start": 162262691
        }
      ],
      "hgvs": [
        "NC_000006.12:g.162262692G=",
        "CM000668.2:g.162262692G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 162683724,
          "referenceAllele": "G",
          "start": 162683723
        }
      ],
      "hgvs": [
        "NC_000006.11:g.162683724G=",
        "CM000668.1:g.162683724G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 162603714,
          "referenceAllele": "G",
          "start": 162603713
        }
      ],
      "hgvs": [
        "NC_000006.10:g.162603714G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 470111,
          "referenceAllele": "C",
          "start": 470110
        }
      ],
      "hgvs": [
        "NG_008289.1:g.470111C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 470111,
          "referenceAllele": "C",
          "start": 470110
        }
      ],
      "hgvs": [
        "NG_008289.2:g.470111C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000338468.8:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343589.4:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 171,
          "endIntronDirection": "-",
          "endIntronOffset": 61439,
          "referenceAllele": "C",
          "start": 171,
          "startIntronDirection": "-",
          "startIntronOffset": 61440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366894.6:c.172-61440C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355860.2:n.172-61440C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749872"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "C",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366898.6:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355865.1:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366898.6:c.245C="
          },
          "RefSeq": {
            "hgvs": "NM_004562.3:c.245C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355865.1:p.Ala82="
          },
          "RefSeq": {
            "hgvs": "NP_004553.2:p.Ala82="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000673871.1:c.240C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000674232.1:n.263C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000674501.1:n.352C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774461"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000338468.7:c.-207C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343589.3:n.-207C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366892.5:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355858.1:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 171,
          "endIntronDirection": "-",
          "endIntronOffset": 61439,
          "referenceAllele": "C",
          "start": 171,
          "startIntronDirection": "-",
          "startIntronOffset": 61440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366894.5:c.-161-61440C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355860.1:n.-161-61440C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "endIntronDirection": "+",
          "endIntronOffset": 180618,
          "referenceAllele": "C",
          "start": 274,
          "startIntronDirection": "+",
          "startIntronOffset": 180617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366896.5:c.171+180618C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355862.1:n.171+180618C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 348,
          "referenceAllele": "C",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366897.5:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355863.1:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 348,
          "referenceAllele": "C",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366898.5:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355865.1:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266079"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 81,
          "referenceAllele": "C",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000479615.5:c.8C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434414.1:p.Ala3="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000612540.1:c.437C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478353.1:p.Ala146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77,
          "referenceAllele": "C",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000615065.1:c.77C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484112.1:p.Ala26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072138541",
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_004562.2:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004553.2:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013987.2:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "NP_054642.2:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 305,
          "endIntronDirection": "+",
          "endIntronOffset": 180618,
          "referenceAllele": "C",
          "start": 305,
          "startIntronDirection": "+",
          "startIntronOffset": 180617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013988.2:c.171+180618C="
      ],
      "proteinEffect": {
        "hgvs": "NP_054643.2:n.171+180618C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_011535863.1:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534165.1:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_011535864.1:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534166.1:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_011535865.1:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534167.1:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_011535866.1:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534168.1:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_011535867.1:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534169.1:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1293,
          "referenceAllele": "C",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_017010908.1:c.359C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866397.1:p.Ala120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_017010909.2:c.8C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866398.1:p.Ala3="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_024446449.1:c.8C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302217.1:p.Ala3="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XR_001743443.2:n.351C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072138541",
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "C",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_004562.3:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004553.2:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366898.6:c.245C="
          },
          "RefSeq": {
            "hgvs": "NM_004562.3:c.245C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355865.1:p.Ala82="
          },
          "RefSeq": {
            "hgvs": "NP_004553.2:p.Ala82="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "C",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013987.3:c.245C="
      ],
      "proteinEffect": {
        "hgvs": "NP_054642.2:p.Ala82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "endIntronDirection": "+",
          "endIntronOffset": 180618,
          "referenceAllele": "C",
          "start": 269,
          "startIntronDirection": "+",
          "startIntronOffset": 180617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013988.3:c.171+180618C="
      ],
      "proteinEffect": {
        "hgvs": "NP_054643.2:n.171+180618C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697162"
    }
  ],
  "type": "nucleotide"
}