{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6830986",
  "communityStandardTitle": [
    "NM_000017.4(ACADS):c.625-99T>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN9457489"
      },
      {
        "active": false,
        "id": "COSN15629309"
      },
      {
        "active": false,
        "id": "COSN15630180"
      },
      {
        "active": false,
        "id": "COSN15630998"
      },
      {
        "active": false,
        "id": "COSN15631830"
      },
      {
        "active": false,
        "id": "COSN15632976"
      },
      {
        "active": false,
        "id": "COSN15633919"
      },
      {
        "active": false,
        "id": "COSN15634759"
      },
      {
        "active": false,
        "id": "COSN15635587"
      },
      {
        "active": false,
        "id": "COSN15637297"
      },
      {
        "active": false,
        "id": "COSN15639012"
      },
      {
        "active": false,
        "id": "COSN15639833"
      },
      {
        "active": false,
        "id": "COSN15640687"
      },
      {
        "active": false,
        "id": "COSN15643063"
      },
      {
        "active": false,
        "id": "COSN15643962"
      },
      {
        "active": false,
        "id": "COSN15644732"
      },
      {
        "active": false,
        "id": "COSN15645608"
      },
      {
        "active": false,
        "id": "COSN15646441"
      },
      {
        "active": false,
        "id": "COSN15647241"
      },
      {
        "active": false,
        "id": "COSN17979864"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1178939[alleleid]",
        "alleleId": 1178939,
        "preferredName": "NM_000017.4(ACADS):c.625-99T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1188992",
        "RCV": [
          "RCV001549202",
          "RCV001713036"
        ],
        "variationId": 1188992
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-121175984-T-C",
        "id": "12-121175984-T-C",
        "variant": "12:121175984 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.121175984T>C?assembly=hg19",
        "id": "chr12:g.121175984T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.120738181T>C?assembly=hg38",
        "id": "chr12:g.120738181T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/555404",
        "rs": 555404
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-121175984-T-C?dataset=gnomad_r2_1",
        "id": "12-121175984-T-C",
        "variant": "12:121175984 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-120738181-T-C?dataset=gnomad_r3",
        "id": "12-120738181-T-C",
        "variant": "12:120738181 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-120738181-T-C?dataset=gnomad_r4",
        "id": "12-120738181-T-C",
        "variant": "12:120738181 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 120738181,
          "referenceAllele": "T",
          "start": 120738180
        }
      ],
      "hgvs": [
        "NC_000012.12:g.120738181T>C",
        "CM000674.2:g.120738181T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 121175984,
          "referenceAllele": "T",
          "start": 121175983
        }
      ],
      "hgvs": [
        "NC_000012.11:g.121175984T>C",
        "CM000674.1:g.121175984T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 119660367,
          "referenceAllele": "T",
          "start": 119660366
        }
      ],
      "hgvs": [
        "NC_000012.10:g.119660367T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17414,
          "referenceAllele": "T",
          "start": 17413
        }
      ],
      "hgvs": [
        "NG_007991.1:g.17414T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000758"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 684,
          "endIntronDirection": "-",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 684,
          "startIntronDirection": "-",
          "startIntronOffset": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000090",
      "geneNCBI_id": 35,
      "geneSymbol": "ACADS",
      "hgvs": [
        "ENST00000242592.9:c.625-99T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242592.4:n.625-99T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242592.9:c.625-99T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000017.4:c.625-99T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242592.4:n.625-99T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000008.1:n.625-99T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 775,
          "endIntronDirection": "-",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 775,
          "startIntronDirection": "-",
          "startIntronOffset": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000090",
      "geneNCBI_id": 35,
      "geneSymbol": "ACADS",
      "hgvs": [
        "ENST00000242592.8:c.625-99T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242592.4:n.625-99T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 630,
          "referenceAllele": "T",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000090",
      "geneNCBI_id": 35,
      "geneSymbol": "ACADS",
      "hgvs": [
        "ENST00000411593.2:c.605T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401045.2:p.Leu202Pro",
        "hgvsWellDefined": "ENSP00000401045.2:p.Leu202Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 772,
          "endIntronDirection": "-",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 772,
          "startIntronDirection": "-",
          "startIntronOffset": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000090",
      "geneNCBI_id": 35,
      "geneSymbol": "ACADS",
      "hgvs": [
        "NM_000017.3:c.625-99T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000008.1:n.625-99T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499247135",
      "coordinates": [
        {
          "allele": "C",
          "end": 753,
          "referenceAllele": "T",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000090",
      "geneNCBI_id": 35,
      "geneSymbol": "ACADS",
      "hgvs": [
        "NM_001302554.1:c.605T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289483.1:p.Leu202Pro",
        "hgvsWellDefined": "NP_001289483.1:p.Leu202Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 684,
          "endIntronDirection": "-",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 684,
          "startIntronDirection": "-",
          "startIntronOffset": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000090",
      "geneNCBI_id": 35,
      "geneSymbol": "ACADS",
      "hgvs": [
        "NM_000017.4:c.625-99T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000008.1:n.625-99T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662283",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242592.9:c.625-99T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000017.4:c.625-99T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242592.4:n.625-99T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000008.1:n.625-99T>C"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499247135",
      "coordinates": [
        {
          "allele": "C",
          "end": 665,
          "referenceAllele": "T",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000090",
      "geneNCBI_id": 35,
      "geneSymbol": "ACADS",
      "hgvs": [
        "NM_001302554.2:c.605T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289483.1:p.Leu202Pro",
        "hgvsWellDefined": "NP_001289483.1:p.Leu202Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683465"
    }
  ],
  "type": "nucleotide"
}