{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA157436",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.968A>G (p.Lys323Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132975[alleleid]",
        "alleleId": 132975,
        "preferredName": "NM_000057.4(BLM):c.968A>G (p.Lys323Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127518",
        "RCV": [
          "RCV000120244",
          "RCV000226028",
          "RCV000575545",
          "RCV000656781",
          "RCV003492470"
        ],
        "variationId": 127518
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-91298049-A-G",
        "id": "15-91298049-A-G",
        "variant": "15:91298049 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91298049A>G?assembly=hg19",
        "id": "chr15:g.91298049A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90754819A>G?assembly=hg38",
        "id": "chr15:g.90754819A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146504061",
        "rs": 146504061
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-91298049-A-G?dataset=gnomad_r2_1",
        "id": "15-91298049-A-G",
        "variant": "15:91298049 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90754819-A-G?dataset=gnomad_r3",
        "id": "15-90754819-A-G",
        "variant": "15:90754819 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90754819-A-G?dataset=gnomad_r4",
        "id": "15-90754819-A-G",
        "variant": "15:90754819 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 90754819,
          "referenceAllele": "A",
          "start": 90754818
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90754819A>G",
        "CM000677.2:g.90754819A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 91298049,
          "referenceAllele": "A",
          "start": 91298048
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91298049A>G",
        "CM000677.1:g.91298049A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89099053,
          "referenceAllele": "A",
          "start": 89099052
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89099053A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42448,
          "referenceAllele": "A",
          "start": 42447
        }
      ],
      "hgvs": [
        "NG_007272.1:g.42448A>G",
        "LRG_20:g.42448A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Lys323Arg",
        "hgvsWellDefined": "ENSP00000347232.3:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.968A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.968A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Lys323Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Lys323Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1050,
          "referenceAllele": "A",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Lys323Arg",
        "hgvsWellDefined": "ENSP00000497646.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "A",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Lys323Arg",
        "hgvsWellDefined": "ENSP00000506117.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1050,
          "referenceAllele": "A",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Lys323Arg",
        "hgvsWellDefined": "ENSP00000506682.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "A",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Lys323Arg",
        "hgvsWellDefined": "ENSP00000347232.3:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 229,
          "referenceAllele": "A",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000558599.1:n.229A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "referenceAllele": "A",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:p.Lys323Arg",
        "hgvsWellDefined": "ENSP00000453359.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1019,
          "referenceAllele": "A",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Lys323Arg",
        "hgvsWellDefined": "ENSP00000454158.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA157438",
      "coordinates": [
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "A",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Lys323Arg",
        "hgvsWellDefined": "NP_000048.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736725",
      "coordinates": [
        {
          "allele": "G",
          "end": 1196,
          "referenceAllele": "A",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Lys323Arg",
        "hgvsWellDefined": "NP_001274175.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015827",
      "coordinates": [
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "A",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Lys323Arg",
        "hgvsWellDefined": "NP_001274176.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "A",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.-324A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-324A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 229,
          "referenceAllele": "A",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.1:c.-214A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-214A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "A",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Lys323Arg",
        "hgvsWellDefined": "XP_011520184.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 254,
          "referenceAllele": "A",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521881.2:c.-214A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-214A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "A",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Lys323Arg",
        "hgvsWellDefined": "XP_011520184.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA157438",
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Lys323Arg",
        "hgvsWellDefined": "NP_000048.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.968A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.968A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Lys323Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Lys323Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736725",
      "coordinates": [
        {
          "allele": "G",
          "end": 1177,
          "referenceAllele": "A",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Lys323Arg",
        "hgvsWellDefined": "NP_001274175.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015827",
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Lys323Arg",
        "hgvsWellDefined": "NP_001274176.1:p.Lys323Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.-324A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-324A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}