{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141580615",
  "communityStandardTitle": [
    "NM_003000.3(SDHB):c.299C= (p.Ser100=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121917755",
        "rs": 121917755
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 17028724,
          "referenceAllele": "G",
          "start": 17028723
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17028724G=",
        "CM000663.2:g.17028724G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 17355219,
          "referenceAllele": "G",
          "start": 17355218
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17355219G=",
        "CM000663.1:g.17355219G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 17227806,
          "referenceAllele": "G",
          "start": 17227805
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17227806G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30447,
          "referenceAllele": "C",
          "start": 30446
        }
      ],
      "hgvs": [
        "NG_012340.1:g.30447C=",
        "LRG_316:g.30447C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002378"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000463045.3:c.128C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481376.2:p.Ser43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000491274.6:c.257C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480482.2:p.Ser86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000375499.8:c.299C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364649.3:p.Ser100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751624",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375499.8:c.299C="
          },
          "RefSeq": {
            "hgvs": "NM_003000.3:c.299C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364649.3:p.Ser100="
          },
          "RefSeq": {
            "hgvs": "NP_002991.2:p.Ser100="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000375499.7:c.299C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364649.3:p.Ser100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000463045.2:c.128C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481376.1:p.Ser43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307165"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216,
          "referenceAllele": "C",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000475506.1:n.216C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000485515.5:n.287C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000491274.5:c.257C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480482.1:p.Ser86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328910"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829410921",
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "NM_003000.2:c.299C=",
        "LRG_316t1:c.299C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002991.2:p.Ser100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829410921",
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "NM_003000.3:c.299C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002991.2:p.Ser100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375499.8:c.299C="
          },
          "RefSeq": {
            "hgvs": "NM_003000.3:c.299C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364649.3:p.Ser100="
          },
          "RefSeq": {
            "hgvs": "NP_002991.2:p.Ser100="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}