{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1147513014",
  "communityStandardTitle": [
    "NM_003000.3(SDHB):c.269G= (p.Arg90=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/570278423",
        "rs": 570278423
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17033077,
          "referenceAllele": "C",
          "start": 17033076
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17033077C=",
        "CM000663.2:g.17033077C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17359572,
          "referenceAllele": "C",
          "start": 17359571
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17359572C=",
        "CM000663.1:g.17359572C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17232159,
          "referenceAllele": "C",
          "start": 17232158
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17232159C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26094,
          "referenceAllele": "G",
          "start": 26093
        }
      ],
      "hgvs": [
        "NG_012340.1:g.26094G=",
        "LRG_316:g.26094G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002378"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000463045.3:c.98G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481376.2:p.Arg33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000491274.6:c.227G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480482.2:p.Arg76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000375499.8:c.269G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364649.3:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751624",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375499.8:c.269G="
          },
          "RefSeq": {
            "hgvs": "NM_003000.3:c.269G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364649.3:p.Arg90="
          },
          "RefSeq": {
            "hgvs": "NP_002991.2:p.Arg90="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000375499.7:c.269G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364649.3:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000463045.2:c.98G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481376.1:p.Arg33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 281,
          "referenceAllele": "G",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000466613.2:n.281G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 186,
          "referenceAllele": "G",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000475506.1:n.186G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316776"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000485515.5:n.257G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000491274.5:c.227G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480482.1:p.Arg76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328910"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900261",
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "NM_003000.2:c.269G=",
        "LRG_316t1:c.269G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002991.2:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900261",
      "coordinates": [
        {
          "allele": "G",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "NM_003000.3:c.269G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002991.2:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375499.8:c.269G="
          },
          "RefSeq": {
            "hgvs": "NM_003000.3:c.269G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364649.3:p.Arg90="
          },
          "RefSeq": {
            "hgvs": "NP_002991.2:p.Arg90="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}