{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5174920",
  "communityStandardTitle": [
    "NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=955643[alleleid]",
        "alleleId": 955643,
        "preferredName": "NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/964807",
        "RCV": [
          "RCV001239109",
          "RCV002499392"
        ],
        "variationId": 964807
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-111665858-A-G",
        "id": "9-111665858-A-G",
        "variant": "9:111665858 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.111665858A>G?assembly=hg19",
        "id": "chr9:g.111665858A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.108903578A>G?assembly=hg38",
        "id": "chr9:g.108903578A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199555804",
        "rs": 199555804
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-111665858-A-G?dataset=gnomad_r2_1",
        "id": "9-111665858-A-G",
        "variant": "9:111665858 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108903578-A-G?dataset=gnomad_r3",
        "id": "9-108903578-A-G",
        "variant": "9:108903578 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108903578-A-G?dataset=gnomad_r4",
        "id": "9-108903578-A-G",
        "variant": "9:108903578 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 108903578,
          "referenceAllele": "A",
          "start": 108903577
        }
      ],
      "hgvs": [
        "NC_000009.12:g.108903578A>G",
        "CM000671.2:g.108903578A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 111665858,
          "referenceAllele": "A",
          "start": 111665857
        }
      ],
      "hgvs": [
        "NC_000009.11:g.111665858A>G",
        "CM000671.1:g.111665858A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 110705679,
          "referenceAllele": "A",
          "start": 110705678
        }
      ],
      "hgvs": [
        "NC_000009.10:g.110705679A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35751,
          "referenceAllele": "T",
          "start": 35750
        }
      ],
      "hgvs": [
        "NG_008788.1:g.35751T>C",
        "LRG_251:g.35751T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2051,
          "referenceAllele": "T",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.10:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000363779.5:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.1735T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.1735T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Phe579Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Phe579Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1232,
          "referenceAllele": "T",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000495759.6:c.*345T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433514.2:n.*345T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "T",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674535.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502142.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000502142.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3542,
          "referenceAllele": "T",
          "start": 3541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674704.1:n.3542T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "T",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674836.1:n.2040T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "T",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674890.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501870.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000501870.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1844,
          "referenceAllele": "T",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674938.1:c.1393T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502427.1:p.Phe465Leu",
        "hgvsWellDefined": "ENSP00000502427.1:p.Phe465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2110,
          "referenceAllele": "T",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674948.1:c.1393T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501602.1:p.Phe465Leu",
        "hgvsWellDefined": "ENSP00000501602.1:p.Phe465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "T",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675052.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502664.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000502664.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "T",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675078.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501549.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000501549.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1854,
          "referenceAllele": "T",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675215.1:c.*959T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502558.1:n.*959T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3562,
          "referenceAllele": "T",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675233.1:n.3562T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1735,
          "referenceAllele": "T",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675321.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502751.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000502751.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3531,
          "referenceAllele": "T",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675325.1:n.3531T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "T",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675335.1:c.1766T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502182.1:n.1766T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3408,
          "referenceAllele": "T",
          "start": 3407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675400.1:n.3408T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2038,
          "referenceAllele": "T",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675406.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501893.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000501893.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1828,
          "referenceAllele": "T",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675458.1:c.1828T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501754.1:n.1828T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3531,
          "referenceAllele": "T",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675507.1:n.3531T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "T",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675535.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501667.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000501667.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3531,
          "referenceAllele": "T",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675566.1:n.3531T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4783,
          "referenceAllele": "T",
          "start": 4782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675602.1:n.4783T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "T",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675647.1:n.2040T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1735,
          "referenceAllele": "T",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675711.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502485.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000502485.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "T",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675727.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501722.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000501722.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3369,
          "referenceAllele": "T",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675748.1:n.3369T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2049,
          "referenceAllele": "T",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675765.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502640.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000502640.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "T",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675825.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502632.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000502632.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "T",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675877.1:n.2040T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3523,
          "referenceAllele": "T",
          "start": 3522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675893.1:c.*2804T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502001.1:n.*2804T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5350,
          "referenceAllele": "T",
          "start": 5349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675943.1:n.5350T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1949,
          "referenceAllele": "T",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675979.1:c.*978T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502208.1:n.*978T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2040,
          "referenceAllele": "T",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676044.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502378.1:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000502378.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3520,
          "referenceAllele": "T",
          "start": 3519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676086.1:n.3520T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3563,
          "referenceAllele": "T",
          "start": 3562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676121.1:n.3563T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1941,
          "referenceAllele": "T",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676237.1:c.1636T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501828.1:p.Phe546Leu",
        "hgvsWellDefined": "ENSP00000501828.1:p.Phe546Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1725,
          "referenceAllele": "T",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676416.1:c.1393T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501660.1:p.Phe465Leu",
        "hgvsWellDefined": "ENSP00000501660.1:p.Phe465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3531,
          "referenceAllele": "T",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676424.1:n.3531T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6204,
          "referenceAllele": "T",
          "start": 6203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676429.1:n.6204T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2043,
          "referenceAllele": "T",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.9:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Phe579Leu",
        "hgvsWellDefined": "ENSP00000363779.5:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "T",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000537196.1:c.688T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439367.1:p.Phe230Leu",
        "hgvsWellDefined": "ENSP00000439367.1:p.Phe230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139718110",
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "referenceAllele": "T",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.3:c.1735T>C",
        "LRG_251t1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Phe579Leu",
        "hgvsWellDefined": "NP_003631.2:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1825,
          "referenceAllele": "T",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_005252285.2:c.1393T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252342.1:p.Phe465Leu",
        "hgvsWellDefined": "XP_005252342.1:p.Phe465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2051,
          "referenceAllele": "T",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Phe579Leu",
        "hgvsWellDefined": "XP_011517438.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1825,
          "referenceAllele": "T",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519137.1:c.1393T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517439.1:p.Phe465Leu",
        "hgvsWellDefined": "XP_011517439.1:p.Phe465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2051,
          "referenceAllele": "T",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.1:n.2051T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125988"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826988462",
      "coordinates": [
        {
          "allele": "C",
          "end": 2114,
          "referenceAllele": "T",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.1:c.1393T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Phe465Leu",
        "hgvsWellDefined": "NP_001305289.1:p.Phe465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827346190",
      "coordinates": [
        {
          "allele": "C",
          "end": 2071,
          "referenceAllele": "T",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.1:c.688T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Phe230Leu",
        "hgvsWellDefined": "NP_001317678.1:p.Phe230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139718110",
      "coordinates": [
        {
          "allele": "C",
          "end": 2259,
          "referenceAllele": "T",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.4:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Phe579Leu",
        "hgvsWellDefined": "NP_003631.2:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2062,
          "referenceAllele": "T",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.2:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Phe579Leu",
        "hgvsWellDefined": "XP_011517438.1:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2062,
          "referenceAllele": "T",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.3:n.2062T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139718110",
      "coordinates": [
        {
          "allele": "C",
          "end": 2051,
          "referenceAllele": "T",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.5:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Phe579Leu",
        "hgvsWellDefined": "NP_003631.2:p.Phe579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.1735T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.1735T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Phe579Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Phe579Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826988462",
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "T",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.2:c.1393T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Phe465Leu",
        "hgvsWellDefined": "NP_001305289.1:p.Phe465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827346190",
      "coordinates": [
        {
          "allele": "C",
          "end": 1863,
          "referenceAllele": "T",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.2:c.688T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Phe230Leu",
        "hgvsWellDefined": "NP_001317678.1:p.Phe230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687100"
    }
  ],
  "type": "nucleotide"
}