{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7738318",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.635C>T (p.Ser212Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=529150[alleleid]",
        "alleleId": 529150,
        "preferredName": "NM_000057.4(BLM):c.635C>T (p.Ser212Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524788",
        "RCV": [
          "RCV000628652",
          "RCV001025173"
        ],
        "variationId": 524788
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-91293133-C-T",
        "id": "15-91293133-C-T",
        "variant": "15:91293133 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91293133C>T?assembly=hg19",
        "id": "chr15:g.91293133C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90749903C>T?assembly=hg38",
        "id": "chr15:g.90749903C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777938065",
        "rs": 777938065
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-91293133-C-T?dataset=gnomad_r2_1",
        "id": "15-91293133-C-T",
        "variant": "15:91293133 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90749903-C-T?dataset=gnomad_r3",
        "id": "15-90749903-C-T",
        "variant": "15:90749903 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90749903-C-T?dataset=gnomad_r4",
        "id": "15-90749903-C-T",
        "variant": "15:90749903 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 90749903,
          "referenceAllele": "C",
          "start": 90749902
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90749903C>T",
        "CM000677.2:g.90749903C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 91293133,
          "referenceAllele": "C",
          "start": 91293132
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91293133C>T",
        "CM000677.1:g.91293133C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89094137,
          "referenceAllele": "C",
          "start": 89094136
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89094137C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37532,
          "referenceAllele": "C",
          "start": 37531
        }
      ],
      "hgvs": [
        "NG_007272.1:g.37532C>T",
        "LRG_20:g.37532C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Ser212Phe",
        "hgvsWellDefined": "ENSP00000347232.3:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.635C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.635C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Ser212Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Ser212Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 717,
          "referenceAllele": "C",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Ser212Phe",
        "hgvsWellDefined": "ENSP00000497646.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Ser212Phe",
        "hgvsWellDefined": "ENSP00000506117.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 717,
          "referenceAllele": "C",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Ser212Phe",
        "hgvsWellDefined": "ENSP00000506682.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "C",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Ser212Phe",
        "hgvsWellDefined": "ENSP00000347232.3:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559282.1:n.809C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:p.Ser212Phe",
        "hgvsWellDefined": "ENSP00000453359.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Ser212Phe",
        "hgvsWellDefined": "ENSP00000454158.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658802467",
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "C",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Ser212Phe",
        "hgvsWellDefined": "NP_000048.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736460",
      "coordinates": [
        {
          "allele": "T",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Ser212Phe",
        "hgvsWellDefined": "NP_001274175.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015742",
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "C",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Ser212Phe",
        "hgvsWellDefined": "NP_001274176.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "C",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.-657C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-657C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Ser212Phe",
        "hgvsWellDefined": "XP_011520184.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Ser212Phe",
        "hgvsWellDefined": "XP_011520184.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658802467",
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Ser212Phe",
        "hgvsWellDefined": "NP_000048.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.635C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.635C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Ser212Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Ser212Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736460",
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "C",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Ser212Phe",
        "hgvsWellDefined": "NP_001274175.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015742",
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Ser212Phe",
        "hgvsWellDefined": "NP_001274176.1:p.Ser212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.-657C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-657C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}