{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5174818",
  "communityStandardTitle": [
    "NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=310631[alleleid]",
        "alleleId": 310631,
        "preferredName": "NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364568",
        "RCV": [
          "RCV000265311",
          "RCV000823514",
          "RCV002488817"
        ],
        "variationId": 364568
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-111663711-A-G",
        "id": "9-111663711-A-G",
        "variant": "9:111663711 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.111663711A>G?assembly=hg19",
        "id": "chr9:g.111663711A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.108901431A>G?assembly=hg38",
        "id": "chr9:g.108901431A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376699949",
        "rs": 376699949
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-111663711-A-G?dataset=gnomad_r2_1",
        "id": "9-111663711-A-G",
        "variant": "9:111663711 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108901431-A-G?dataset=gnomad_r3",
        "id": "9-108901431-A-G",
        "variant": "9:108901431 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108901431-A-G?dataset=gnomad_r4",
        "id": "9-108901431-A-G",
        "variant": "9:108901431 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 108901431,
          "referenceAllele": "A",
          "start": 108901430
        }
      ],
      "hgvs": [
        "NC_000009.12:g.108901431A>G",
        "CM000671.2:g.108901431A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 111663711,
          "referenceAllele": "A",
          "start": 111663710
        }
      ],
      "hgvs": [
        "NC_000009.11:g.111663711A>G",
        "CM000671.1:g.111663711A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 110703532,
          "referenceAllele": "A",
          "start": 110703531
        }
      ],
      "hgvs": [
        "NC_000009.10:g.110703532A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37898,
          "referenceAllele": "T",
          "start": 37897
        }
      ],
      "hgvs": [
        "NG_008788.1:g.37898T>C",
        "LRG_251:g.37898T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2324,
          "referenceAllele": "T",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.10:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000363779.5:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.2008T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.2008T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Phe670Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Phe670Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "T",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000495759.6:c.*618T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433514.2:n.*618T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674535.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502142.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000502142.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3815,
          "referenceAllele": "T",
          "start": 3814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674704.1:n.3815T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674836.1:n.2313T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674890.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501870.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000501870.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2117,
          "referenceAllele": "T",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674938.1:c.1666T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502427.1:p.Phe556Leu",
        "hgvsWellDefined": "ENSP00000502427.1:p.Phe556Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2383,
          "referenceAllele": "T",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674948.1:c.1666T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501602.1:p.Phe556Leu",
        "hgvsWellDefined": "ENSP00000501602.1:p.Phe556Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675052.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502664.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000502664.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675078.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501549.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000501549.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2127,
          "referenceAllele": "T",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675215.1:c.*1232T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502558.1:n.*1232T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3835,
          "referenceAllele": "T",
          "start": 3834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675233.1:n.3835T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2008,
          "referenceAllele": "T",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675321.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502751.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000502751.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3804,
          "referenceAllele": "T",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675325.1:n.3804T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2039,
          "referenceAllele": "T",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675335.1:c.2039T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502182.1:n.2039T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3681,
          "referenceAllele": "T",
          "start": 3680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675400.1:n.3681T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2311,
          "referenceAllele": "T",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675406.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501893.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000501893.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2101,
          "referenceAllele": "T",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675458.1:c.2101T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501754.1:n.2101T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3804,
          "referenceAllele": "T",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675507.1:n.3804T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675535.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501667.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000501667.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3804,
          "referenceAllele": "T",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675566.1:n.3804T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5056,
          "referenceAllele": "T",
          "start": 5055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675602.1:n.5056T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675647.1:n.2313T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2008,
          "referenceAllele": "T",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675711.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502485.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000502485.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675727.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501722.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000501722.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3642,
          "referenceAllele": "T",
          "start": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675748.1:n.3642T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2322,
          "referenceAllele": "T",
          "start": 2321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675765.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502640.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000502640.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675825.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502632.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000502632.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675877.1:n.2313T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3796,
          "referenceAllele": "T",
          "start": 3795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675893.1:c.*3077T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502001.1:n.*3077T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5623,
          "referenceAllele": "T",
          "start": 5622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675943.1:n.5623T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2222,
          "referenceAllele": "T",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675979.1:c.*1251T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502208.1:n.*1251T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676044.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502378.1:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000502378.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3793,
          "referenceAllele": "T",
          "start": 3792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676086.1:n.3793T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3836,
          "referenceAllele": "T",
          "start": 3835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676121.1:n.3836T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2214,
          "referenceAllele": "T",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676237.1:c.1909T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501828.1:p.Phe637Leu",
        "hgvsWellDefined": "ENSP00000501828.1:p.Phe637Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1998,
          "referenceAllele": "T",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676416.1:c.1666T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501660.1:p.Phe556Leu",
        "hgvsWellDefined": "ENSP00000501660.1:p.Phe556Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3804,
          "referenceAllele": "T",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676424.1:n.3804T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6477,
          "referenceAllele": "T",
          "start": 6476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676429.1:n.6477T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "referenceAllele": "T",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.9:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Phe670Leu",
        "hgvsWellDefined": "ENSP00000363779.5:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1358,
          "referenceAllele": "T",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000537196.1:c.961T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439367.1:p.Phe321Leu",
        "hgvsWellDefined": "ENSP00000439367.1:p.Phe321Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645427369",
      "coordinates": [
        {
          "allele": "C",
          "end": 2528,
          "referenceAllele": "T",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.3:c.2008T>C",
        "LRG_251t1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Phe670Leu",
        "hgvsWellDefined": "NP_003631.2:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2098,
          "referenceAllele": "T",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_005252285.2:c.1666T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252342.1:p.Phe556Leu",
        "hgvsWellDefined": "XP_005252342.1:p.Phe556Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2324,
          "referenceAllele": "T",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Phe670Leu",
        "hgvsWellDefined": "XP_011517438.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2098,
          "referenceAllele": "T",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519137.1:c.1666T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517439.1:p.Phe556Leu",
        "hgvsWellDefined": "XP_011517439.1:p.Phe556Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2324,
          "referenceAllele": "T",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.1:n.2324T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125988"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826988553",
      "coordinates": [
        {
          "allele": "C",
          "end": 2387,
          "referenceAllele": "T",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.1:c.1666T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Phe556Leu",
        "hgvsWellDefined": "NP_001305289.1:p.Phe556Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827346314",
      "coordinates": [
        {
          "allele": "C",
          "end": 2344,
          "referenceAllele": "T",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.1:c.961T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Phe321Leu",
        "hgvsWellDefined": "NP_001317678.1:p.Phe321Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645427369",
      "coordinates": [
        {
          "allele": "C",
          "end": 2532,
          "referenceAllele": "T",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.4:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Phe670Leu",
        "hgvsWellDefined": "NP_003631.2:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2335,
          "referenceAllele": "T",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.2:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Phe670Leu",
        "hgvsWellDefined": "XP_011517438.1:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2335,
          "referenceAllele": "T",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.3:n.2335T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645427369",
      "coordinates": [
        {
          "allele": "C",
          "end": 2324,
          "referenceAllele": "T",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.5:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Phe670Leu",
        "hgvsWellDefined": "NP_003631.2:p.Phe670Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.2008T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.2008T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Phe670Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Phe670Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826988553",
      "coordinates": [
        {
          "allele": "C",
          "end": 2179,
          "referenceAllele": "T",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.2:c.1666T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Phe556Leu",
        "hgvsWellDefined": "NP_001305289.1:p.Phe556Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827346314",
      "coordinates": [
        {
          "allele": "C",
          "end": 2136,
          "referenceAllele": "T",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.2:c.961T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Phe321Leu",
        "hgvsWellDefined": "NP_001317678.1:p.Phe321Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687100"
    }
  ],
  "type": "nucleotide"
}