{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA571703615",
  "communityStandardTitle": [
    "NM_004562.3(PRKN):c.*1576C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=895632[alleleid]",
        "alleleId": 895632,
        "preferredName": "NM_004562.3(PRKN):c.*1576C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/903734",
        "RCV": [
          "RCV001151242"
        ],
        "variationId": 903734
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.161769555G>A?assembly=hg19",
        "id": "chr6:g.161769555G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.161348523G>A?assembly=hg38",
        "id": "chr6:g.161348523G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1401264418",
        "rs": 1401264418
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-161769555-G-A?dataset=gnomad_r2_1",
        "id": "6-161769555-G-A",
        "variant": "6:161769555 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-161348523-G-A?dataset=gnomad_r3",
        "id": "6-161348523-G-A",
        "variant": "6:161348523 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-161348523-G-A?dataset=gnomad_r4",
        "id": "6-161348523-G-A",
        "variant": "6:161348523 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 161348523,
          "referenceAllele": "G",
          "start": 161348522
        }
      ],
      "hgvs": [
        "NC_000006.12:g.161348523G>A",
        "CM000668.2:g.161348523G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 161769555,
          "referenceAllele": "G",
          "start": 161769554
        }
      ],
      "hgvs": [
        "NC_000006.11:g.161769555G>A",
        "CM000668.1:g.161769555G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 161689545,
          "referenceAllele": "G",
          "start": 161689544
        }
      ],
      "hgvs": [
        "NC_000006.10:g.161689545G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384280,
          "referenceAllele": "C",
          "start": 1384279
        }
      ],
      "hgvs": [
        "NG_008289.1:g.1384280C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384280,
          "referenceAllele": "C",
          "start": 1384279
        }
      ],
      "hgvs": [
        "NG_008289.2:g.1384280C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3072,
          "referenceAllele": "C",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366898.6:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355865.1:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366898.6:c.*1576C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004562.3:c.*1576C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355865.1:n.*1576C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004553.2:n.*1576C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3055,
          "referenceAllele": "C",
          "start": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000673871.1:c.3055C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2359,
          "referenceAllele": "C",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000674006.1:n.2359C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2610,
          "referenceAllele": "C",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000674436.1:n.2610C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3077,
          "referenceAllele": "C",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "ENST00000366898.5:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355865.1:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3108,
          "referenceAllele": "C",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_004562.2:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004553.2:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3024,
          "referenceAllele": "C",
          "start": 3023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013987.2:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054642.2:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2661,
          "referenceAllele": "C",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013988.2:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054643.2:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3105,
          "referenceAllele": "C",
          "start": 3104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_011535863.1:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534165.1:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4022,
          "referenceAllele": "C",
          "start": 4021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_017010908.1:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866397.1:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2907,
          "referenceAllele": "C",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_017010909.2:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866398.1:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2920,
          "referenceAllele": "C",
          "start": 2919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XM_024446449.1:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302217.1:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3166,
          "referenceAllele": "C",
          "start": 3165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "XR_001743443.2:n.3166C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3072,
          "referenceAllele": "C",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_004562.3:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004553.2:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366898.6:c.*1576C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004562.3:c.*1576C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355865.1:n.*1576C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004553.2:n.*1576C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2988,
          "referenceAllele": "C",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013987.3:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054642.2:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2625,
          "referenceAllele": "C",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013988.3:c.*1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054643.2:n.*1576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697162"
    }
  ],
  "type": "nucleotide"
}