{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397723262",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.604C>T (p.Leu202Phe)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5387195",
        "active": true,
        "id": "COSM5387195"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1909949[alleleid]",
        "alleleId": 1909949,
        "preferredName": "NM_000018.4(ACADVL):c.604C>T (p.Leu202Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2182425",
        "RCV": [
          "RCV002592007"
        ],
        "variationId": 2182425
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7124983C>T?assembly=hg19",
        "id": "chr17:g.7124983C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7221664C>T?assembly=hg38",
        "id": "chr17:g.7221664C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2071234346",
        "rs": 2071234346
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7221664,
          "referenceAllele": "C",
          "start": 7221663
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7221664C>T",
        "CM000679.2:g.7221664C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7124983,
          "referenceAllele": "C",
          "start": 7124982
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7124983C>T",
        "CM000679.1:g.7124983C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7065707,
          "referenceAllele": "C",
          "start": 7065706
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7065707C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6831,
          "referenceAllele": "C",
          "start": 6830
        }
      ],
      "hgvs": [
        "NG_007975.1:g.6831C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3387,
          "referenceAllele": "G",
          "start": 3386
        }
      ],
      "hgvs": [
        "NG_008391.2:g.3387G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Leu202Phe",
        "hgvsWellDefined": "ENSP00000349297.5:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.604C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.604C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Leu202Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Leu202Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*559C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*559C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.538C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Leu180Phe",
        "hgvsWellDefined": "ENSP00000344152.5:p.Leu180Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Leu202Phe",
        "hgvsWellDefined": "ENSP00000349297.5:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.673C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Leu225Phe",
        "hgvsWellDefined": "ENSP00000438689.2:p.Leu225Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577191.5:n.681C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577857.5:n.420C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579286.5:n.785C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579886.2:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463246.1:p.Leu148Phe",
        "hgvsWellDefined": "ENSP00000463246.1:p.Leu148Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000580365.1:n.335C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "C",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000581378.5:c.322C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "endIntronDirection": "-",
          "endIntronOffset": 287,
          "referenceAllele": "C",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000581562.5:n.525-288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583312.5:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467920.1:p.Leu202Phe",
        "hgvsWellDefined": "ENSP00000467920.1:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583760.1:n.386C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825003779",
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Leu202Phe",
        "hgvsWellDefined": "NP_000009.1:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374350",
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.538C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Leu180Phe",
        "hgvsWellDefined": "NP_001029031.1:p.Leu180Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580177856",
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.673C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Leu225Phe",
        "hgvsWellDefined": "NP_001257376.1:p.Leu225Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826515486",
      "coordinates": [
        {
          "allele": "T",
          "end": 833,
          "referenceAllele": "C",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Leu126Phe",
        "hgvsWellDefined": "NP_001257377.1:p.Leu126Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Leu202Phe",
        "hgvsWellDefined": "XP_006721579.2:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Leu202Phe",
        "hgvsWellDefined": "XP_011522131.1:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Leu202Phe",
        "hgvsWellDefined": "XP_011522132.1:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.711C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.711C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.711C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Leu202Phe",
        "hgvsWellDefined": "XP_006721579.2:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Leu202Phe",
        "hgvsWellDefined": "XP_011522131.1:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Leu202Phe",
        "hgvsWellDefined": "XP_011522132.1:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Leu202Phe",
        "hgvsWellDefined": "XP_024306509.1:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.663C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.663C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.663C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825003779",
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Leu202Phe",
        "hgvsWellDefined": "NP_000009.1:p.Leu202Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.604C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.604C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Leu202Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Leu202Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374350",
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "referenceAllele": "C",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.538C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Leu180Phe",
        "hgvsWellDefined": "NP_001029031.1:p.Leu180Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580177856",
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.673C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Leu225Phe",
        "hgvsWellDefined": "NP_001257376.1:p.Leu225Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826515486",
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Leu126Phe",
        "hgvsWellDefined": "NP_001257377.1:p.Leu126Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}