{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2631926",
  "communityStandardTitle": [
    "NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=622327[alleleid]",
        "alleleId": 622327,
        "preferredName": "NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/634438",
        "RCV": [
          "RCV000784910"
        ],
        "variationId": 634438
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-136019876-C-T",
        "id": "3-136019876-C-T",
        "variant": "3:136019876 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136019876C>T?assembly=hg19",
        "id": "chr3:g.136019876C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136301034C>T?assembly=hg38",
        "id": "chr3:g.136301034C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/549397464",
        "rs": 549397464
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136019876-C-T?dataset=gnomad_r2_1",
        "id": "3-136019876-C-T",
        "variant": "3:136019876 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136301034-C-T?dataset=gnomad_r3",
        "id": "3-136301034-C-T",
        "variant": "3:136301034 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-136301034-C-T?dataset=gnomad_r4",
        "id": "3-136301034-C-T",
        "variant": "3:136301034 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 136301034,
          "referenceAllele": "C",
          "start": 136301033
        }
      ],
      "hgvs": [
        "NC_000003.12:g.136301034C>T",
        "CM000665.2:g.136301034C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 136019876,
          "referenceAllele": "C",
          "start": 136019875
        }
      ],
      "hgvs": [
        "NC_000003.11:g.136019876C>T",
        "CM000665.1:g.136019876C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 137502566,
          "referenceAllele": "C",
          "start": 137502565
        }
      ],
      "hgvs": [
        "NC_000003.10:g.137502566C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55710,
          "referenceAllele": "C",
          "start": 55709
        }
      ],
      "hgvs": [
        "NG_008939.1:g.55710C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.9:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Arg297Cys",
        "hgvsWellDefined": "ENSP00000251654.4:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.889C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.889C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Arg297Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Arg297Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.8:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Arg297Cys",
        "hgvsWellDefined": "ENSP00000251654.4:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462637.5:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420391.1:p.Arg274Cys",
        "hgvsWellDefined": "ENSP00000420391.1:p.Arg274Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000466072.5:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420158.1:p.Arg297Cys",
        "hgvsWellDefined": "ENSP00000420158.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "C",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000468777.5:c.982C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419129.1:p.Arg328Cys",
        "hgvsWellDefined": "ENSP00000419129.1:p.Arg328Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000469217.5:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419027.1:p.Arg317Cys",
        "hgvsWellDefined": "ENSP00000419027.1:p.Arg317Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000471595.5:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417549.1:p.Arg297Cys",
        "hgvsWellDefined": "ENSP00000417549.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000473073.1:n.846C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000474833.5:n.514C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000475214.5:n.803C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "endIntronDirection": "+",
          "endIntronOffset": 2962,
          "referenceAllele": "C",
          "start": 885,
          "startIntronDirection": "+",
          "startIntronOffset": 2961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000478469.5:c.884+2962C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420759.1:n.884+2962C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000482086.5:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417253.1:p.Arg181Cys",
        "hgvsWellDefined": "ENSP00000417253.1:p.Arg181Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000483687.5:c.832C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420639.1:p.Arg278Cys",
        "hgvsWellDefined": "ENSP00000420639.1:p.Arg278Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000484181.5:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417937.1:p.Arg297Cys",
        "hgvsWellDefined": "ENSP00000417937.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000490504.5:c.718C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418307.1:p.Arg240Cys",
        "hgvsWellDefined": "ENSP00000418307.1:p.Arg240Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195686",
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.4:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Arg297Cys",
        "hgvsWellDefined": "NP_000523.2:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994289",
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.1:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Arg317Cys",
        "hgvsWellDefined": "NP_001171485.1:p.Arg317Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.1:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Arg297Cys",
        "hgvsWellDefined": "XP_011511175.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.2:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Arg297Cys",
        "hgvsWellDefined": "XP_011511175.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195686",
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.5:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Arg297Cys",
        "hgvsWellDefined": "NP_000523.2:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.889C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.889C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Arg297Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Arg297Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915994289",
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Arg317Cys",
        "hgvsWellDefined": "NP_001171485.1:p.Arg317Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}