{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274494",
  "communityStandardTitle": [
    "NM_032409.3(PINK1):c.620del (p.Arg207GlnfsTer14)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187107[alleleid]",
        "alleleId": 187107,
        "preferredName": "NM_032409.3(PINK1):c.620del (p.Arg207fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189240",
        "RCV": [
          "RCV000169671"
        ],
        "variationId": 189240
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.20964567del?assembly=hg19",
        "id": "chr1:g.20964567del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.20638074del?assembly=hg38",
        "id": "chr1:g.20638074del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756677845",
        "rs": 756677845
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-20638073-CG-C?dataset=gnomad_r3",
        "id": "1-20638073-CG-C",
        "variant": "1:20638073 CG / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-20638073-CG-C?dataset=gnomad_r4",
        "id": "1-20638073-CG-C",
        "variant": "1:20638073 CG / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 20638074,
          "referenceAllele": "G",
          "start": 20638073
        }
      ],
      "hgvs": [
        "NC_000001.11:g.20638074del",
        "CM000663.2:g.20638074del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 20964567,
          "referenceAllele": "G",
          "start": 20964566
        }
      ],
      "hgvs": [
        "NC_000001.10:g.20964567del",
        "CM000663.1:g.20964567del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 20837154,
          "referenceAllele": "G",
          "start": 20837153
        }
      ],
      "hgvs": [
        "NC_000001.9:g.20837154del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 9620,
          "referenceAllele": "G",
          "start": 9619
        }
      ],
      "hgvs": [
        "NG_008164.1:g.9620del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000910"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 711,
          "referenceAllele": "G",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000321556.5:c.620del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364204.3:p.Arg207GlnfsTer14",
        "hgvsWellDefined": "ENSP00000364204.3:p.[Arg207_Pro209delinsGlnLeuArg;Ala211del;Ala213_Phe214delinsLeu;Leu216_Met221delinsSerPro;Asn223_Ile224delinsPro;Ala226_Thr236delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321556.5:c.620del"
          },
          "RefSeq": {
            "hgvs": "NM_032409.3:c.620del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364204.3:p.Arg207GlnfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_115785.1:p.Arg207GlnfsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000321556.4:c.620del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364204.3:p.Arg207GlnfsTer14",
        "hgvsWellDefined": "ENSP00000364204.3:p.[Arg207_Pro209delinsGlnLeuArg;Ala211del;Ala213_Phe214delinsLeu;Leu216_Met221delinsSerPro;Asn223_Ile224delinsPro;Ala226_Thr236delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257960"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "NM_032409.2:c.620del"
      ],
      "proteinEffect": {
        "hgvs": "NP_115785.1:p.Arg207GlnfsTer14",
        "hgvsWellDefined": "NP_115785.1:p.[Arg207_Pro209delinsGlnLeuArg;Ala211del;Ala213_Phe214delinsLeu;Leu216_Met221delinsSerPro;Asn223_Ile224delinsPro;Ala226_Thr236delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039061"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 711,
          "referenceAllele": "G",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "NM_032409.3:c.620del"
      ],
      "proteinEffect": {
        "hgvs": "NP_115785.1:p.Arg207GlnfsTer14",
        "hgvsWellDefined": "NP_115785.1:p.[Arg207_Pro209delinsGlnLeuArg;Ala211del;Ala213_Phe214delinsLeu;Leu216_Met221delinsSerPro;Asn223_Ile224delinsPro;Ala226_Thr236delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321556.5:c.620del"
          },
          "RefSeq": {
            "hgvs": "NM_032409.3:c.620del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364204.3:p.Arg207GlnfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_115785.1:p.Arg207GlnfsTer14"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}