{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1144228681",
  "communityStandardTitle": [
    "NM_003000.3(SDHB):c.600G= (p.Trp200=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516836",
        "rs": 397516836
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17024015,
          "referenceAllele": "C",
          "start": 17024014
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17024015C=",
        "CM000663.2:g.17024015C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17350510,
          "referenceAllele": "C",
          "start": 17350509
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17350510C=",
        "CM000663.1:g.17350510C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17223097,
          "referenceAllele": "C",
          "start": 17223096
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17223097C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35156,
          "referenceAllele": "G",
          "start": 35155
        }
      ],
      "hgvs": [
        "NG_012340.1:g.35156G=",
        "LRG_316:g.35156G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002378"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000463045.3:c.429G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481376.2:p.Trp143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000491274.6:c.558G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480482.2:p.Trp186="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000375499.8:c.600G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364649.3:p.Trp200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751624",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375499.8:c.600G="
          },
          "RefSeq": {
            "hgvs": "NM_003000.3:c.600G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364649.3:p.Trp200="
          },
          "RefSeq": {
            "hgvs": "NP_002991.2:p.Trp200="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000375499.7:c.600G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364649.3:p.Trp200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000485515.5:n.534G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000491274.5:c.558G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480482.1:p.Trp186="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328910"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064134909",
      "coordinates": [
        {
          "allele": "G",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "NM_003000.2:c.600G=",
        "LRG_316t1:c.600G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002991.2:p.Trp200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064134909",
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "NM_003000.3:c.600G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002991.2:p.Trp200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375499.8:c.600G="
          },
          "RefSeq": {
            "hgvs": "NM_003000.3:c.600G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364649.3:p.Trp200="
          },
          "RefSeq": {
            "hgvs": "NP_002991.2:p.Trp200="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}