{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3037416",
  "communityStandardTitle": [
    "NM_005327.7(HADH):c.264C>T (p.Ala88=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2953305",
        "active": true,
        "id": "COSM2953305"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2953306",
        "active": true,
        "id": "COSM2953306"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=889850[alleleid]",
        "alleleId": 889850,
        "preferredName": "NM_005327.7(HADH):c.264C>T (p.Ala88=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/903028",
        "RCV": [
          "RCV001150056",
          "RCV001150055",
          "RCV003221363"
        ],
        "variationId": 903028
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-108935589-C-T",
        "id": "4-108935589-C-T",
        "variant": "4:108935589 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.108935589C>T?assembly=hg19",
        "id": "chr4:g.108935589C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.108014433C>T?assembly=hg38",
        "id": "chr4:g.108014433C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201324954",
        "rs": 201324954
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-108935589-C-T?dataset=gnomad_r2_1",
        "id": "4-108935589-C-T",
        "variant": "4:108935589 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-108014433-C-T?dataset=gnomad_r3",
        "id": "4-108014433-C-T",
        "variant": "4:108014433 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-108014433-C-T?dataset=gnomad_r4",
        "id": "4-108014433-C-T",
        "variant": "4:108014433 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 108014433,
          "referenceAllele": "C",
          "start": 108014432
        }
      ],
      "hgvs": [
        "NC_000004.12:g.108014433C>T",
        "CM000666.2:g.108014433C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 108935589,
          "referenceAllele": "C",
          "start": 108935588
        }
      ],
      "hgvs": [
        "NC_000004.11:g.108935589C>T",
        "CM000666.1:g.108935589C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 109155038,
          "referenceAllele": "C",
          "start": 109155037
        }
      ],
      "hgvs": [
        "NC_000004.10:g.109155038C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29650,
          "referenceAllele": "C",
          "start": 29649
        }
      ],
      "hgvs": [
        "NG_008156.2:g.29650C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000902"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000507260.3:n.350C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "referenceAllele": "C",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000626637.2:c.276C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486771.1:p.Ala92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000638648.2:c.276C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507949.1:p.Ala92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000640201.2:n.350C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000640752.2:n.350C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000681992.1:n.301C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000682067.1:c.224C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "C",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000682197.1:n.348C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 4546,
          "referenceAllele": "C",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 4545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000682373.1:c.205+4546C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000684696.1:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507675.1:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000309522.8:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312288.4:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745549",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000309522.8:c.264C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005327.7:c.264C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312288.4:p.Ala88="
          },
          "RefSeq": {
            "hgvs": "NP_005318.6:p.Ala88="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000403312.6:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385638.3:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000505878.4:c.441C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425952.2:p.Ala147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "referenceAllele": "C",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000507260.2:n.307C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000638559.1:c.122C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 9040,
          "referenceAllele": "C",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 9041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000638621.1:c.133-9041C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491581.1:n.133-9041C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000638648.1:n.415C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000639146.1:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492345.1:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000639335.1:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491310.1:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764976"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 144,
          "referenceAllele": "C",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000639698.1:c.144C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492420.1:p.Ala48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "referenceAllele": "C",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000639784.1:c.128C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000640048.1:c.102C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492009.1:p.Ala34="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000640060.1:c.*359C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492734.1:n.*359C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "referenceAllele": "C",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000640201.1:n.219C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000640586.1:c.553C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 343,
          "referenceAllele": "C",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000640752.1:n.343C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000309522.7:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312288.3:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000403312.5:c.441C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385638.2:p.Ala147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000505878.3:c.276C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425952.1:p.Ala92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000603302.5:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474560.1:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "ENST00000626637.1:c.276C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486771.1:p.Ala92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "NM_001184705.2:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171634.2:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "NM_005327.4:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005318.3:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "XM_005262972.1:c.276C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263029.1:p.Ala92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "XR_938726.1:n.413C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "NM_001331027.1:c.276C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317956.1:p.Ala92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "XR_001741214.2:n.358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "XR_002959727.1:n.358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "NM_001184705.3:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171634.2:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829599034",
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "NM_005327.7:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005318.6:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000309522.8:c.264C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005327.7:c.264C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312288.4:p.Ala88="
          },
          "RefSeq": {
            "hgvs": "NP_005318.6:p.Ala88="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826142454",
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "NM_001184705.4:c.264C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171634.3:p.Ala88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713595"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827352536",
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "C",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004799",
      "geneNCBI_id": 3033,
      "geneSymbol": "HADH",
      "hgvs": [
        "NM_001331027.2:c.276C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317956.2:p.Ala92="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718791"
    }
  ],
  "type": "nucleotide"
}