{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA492301232",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.540A>C (p.Val180=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1328282[alleleid]",
        "alleleId": 1328282,
        "preferredName": "NM_000057.4(BLM):c.540A>C (p.Val180=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1337273",
        "RCV": [
          "RCV001820287",
          "RCV002077301"
        ],
        "variationId": 1337273
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.91293038A>C?assembly=hg19",
        "id": "chr15:g.91293038A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763776756",
        "rs": 763776756
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 90749808,
          "referenceAllele": "A",
          "start": 90749807
        }
      ],
      "hgvs": [
        "NC_000015.10:g.90749808A>C",
        "CM000677.2:g.90749808A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 91293038,
          "referenceAllele": "A",
          "start": 91293037
        }
      ],
      "hgvs": [
        "NC_000015.9:g.91293038A>C",
        "CM000677.1:g.91293038A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89094042,
          "referenceAllele": "A",
          "start": 89094041
        }
      ],
      "hgvs": [
        "NC_000015.8:g.89094042A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37437,
          "referenceAllele": "A",
          "start": 37436
        }
      ],
      "hgvs": [
        "NG_007272.1:g.37437A>C",
        "LRG_20:g.37437A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 639,
          "referenceAllele": "A",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.8:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.540A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.540A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Val180="
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Val180="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 622,
          "referenceAllele": "A",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000648453.1:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497646.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 616,
          "referenceAllele": "A",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000680772.1:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506117.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780387"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 622,
          "referenceAllele": "A",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000681142.1:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506682.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000355112.7:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347232.3:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "referenceAllele": "A",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559282.1:n.714A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 581,
          "referenceAllele": "A",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000559724.5:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453359.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "ENST00000560509.5:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454158.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825039926",
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.3:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736380",
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "referenceAllele": "A",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.1:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826739121",
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.1:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.1:c.-752A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-752A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023285"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "referenceAllele": "A",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.1:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 587,
          "referenceAllele": "A",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "XM_011521882.3:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520184.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825039926",
      "coordinates": [
        {
          "allele": "C",
          "end": 639,
          "referenceAllele": "A",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.540A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.540A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Val180="
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Val180="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826736380",
      "coordinates": [
        {
          "allele": "C",
          "end": 749,
          "referenceAllele": "A",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826739121",
      "coordinates": [
        {
          "allele": "C",
          "end": 639,
          "referenceAllele": "A",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.540A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 639,
          "referenceAllele": "A",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.-752A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:n.-752A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}