{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA660409",
  "communityStandardTitle": [
    "NM_032409.3(PINK1):c.388-7A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=249677[alleleid]",
        "alleleId": 249677,
        "preferredName": "NM_032409.3(PINK1):c.388-7A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/262027",
        "RCV": [
          "RCV000254305",
          "RCV000270301",
          "RCV000992540"
        ],
        "variationId": 262027
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-20964328-A-G",
        "id": "1-20964328-A-G",
        "variant": "1:20964328 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.20964328A>G?assembly=hg19",
        "id": "chr1:g.20964328A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.20637835A>G?assembly=hg38",
        "id": "chr1:g.20637835A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2298298",
        "rs": 2298298
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-20964328-A-G?dataset=gnomad_r2_1",
        "id": "1-20964328-A-G",
        "variant": "1:20964328 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-20637835-A-G?dataset=gnomad_r3",
        "id": "1-20637835-A-G",
        "variant": "1:20637835 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-20637835-A-G?dataset=gnomad_r4",
        "id": "1-20637835-A-G",
        "variant": "1:20637835 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 20637835,
          "referenceAllele": "A",
          "start": 20637834
        }
      ],
      "hgvs": [
        "NC_000001.11:g.20637835A>G",
        "CM000663.2:g.20637835A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 20964328,
          "referenceAllele": "A",
          "start": 20964327
        }
      ],
      "hgvs": [
        "NC_000001.10:g.20964328A>G",
        "CM000663.1:g.20964328A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 20836915,
          "referenceAllele": "A",
          "start": 20836914
        }
      ],
      "hgvs": [
        "NC_000001.9:g.20836915A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9381,
          "referenceAllele": "A",
          "start": 9380
        }
      ],
      "hgvs": [
        "NG_008164.1:g.9381A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000910"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "A",
          "start": 478,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000321556.5:c.388-7A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364204.3:n.388-7A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321556.5:c.388-7A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032409.3:c.388-7A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364204.3:n.388-7A>G"
          },
          "RefSeq": {
            "hgvs": "NP_115785.1:n.388-7A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 481,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "A",
          "start": 481,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000321556.4:c.388-7A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364204.3:n.388-7A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 481,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "A",
          "start": 481,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "NM_032409.2:c.388-7A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115785.1:n.388-7A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "A",
          "start": 478,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "NM_032409.3:c.388-7A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115785.1:n.388-7A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321556.5:c.388-7A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032409.3:c.388-7A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364204.3:n.388-7A>G"
          },
          "RefSeq": {
            "hgvs": "NP_115785.1:n.388-7A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}