{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5175080",
  "communityStandardTitle": [
    "NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359749[alleleid]",
        "alleleId": 359749,
        "preferredName": "NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372384",
        "RCV": [
          "RCV000630703",
          "RCV000780354",
          "RCV001168463",
          "RCV001276240"
        ],
        "variationId": 372384
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-111673437-G-A",
        "id": "9-111673437-G-A",
        "variant": "9:111673437 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.111673437G>A?assembly=hg19",
        "id": "chr9:g.111673437G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.108911157G>A?assembly=hg38",
        "id": "chr9:g.108911157G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139703788",
        "rs": 139703788
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-111673437-G-A?dataset=gnomad_r2_1",
        "id": "9-111673437-G-A",
        "variant": "9:111673437 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108911157-G-A?dataset=gnomad_r3",
        "id": "9-108911157-G-A",
        "variant": "9:108911157 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108911157-G-A?dataset=gnomad_r4",
        "id": "9-108911157-G-A",
        "variant": "9:108911157 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 108911157,
          "referenceAllele": "G",
          "start": 108911156
        }
      ],
      "hgvs": [
        "NC_000009.12:g.108911157G>A",
        "CM000671.2:g.108911157G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 111673437,
          "referenceAllele": "G",
          "start": 111673436
        }
      ],
      "hgvs": [
        "NC_000009.11:g.111673437G>A",
        "CM000671.1:g.111673437G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 110713258,
          "referenceAllele": "G",
          "start": 110713257
        }
      ],
      "hgvs": [
        "NC_000009.10:g.110713258G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28172,
          "referenceAllele": "C",
          "start": 28171
        }
      ],
      "hgvs": [
        "NG_008788.1:g.28172C>T",
        "LRG_251:g.28172C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.10:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000363779.5:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.1213C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.1213C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Arg405Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Arg405Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "endIntronDirection": "-",
          "endIntronOffset": 2752,
          "referenceAllele": "C",
          "start": 857,
          "startIntronDirection": "-",
          "startIntronOffset": 2753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000495759.6:c.553-2753C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433514.2:n.553-2753C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674535.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502142.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000502142.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3020,
          "referenceAllele": "C",
          "start": 3019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674704.1:n.3020C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674836.1:n.1518C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674890.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501870.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000501870.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674938.1:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502427.1:p.Arg291Trp",
        "hgvsWellDefined": "ENSP00000502427.1:p.Arg291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674948.1:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501602.1:p.Arg291Trp",
        "hgvsWellDefined": "ENSP00000501602.1:p.Arg291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675052.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502664.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000502664.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675078.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501549.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000501549.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675215.1:c.*437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502558.1:n.*437C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3040,
          "referenceAllele": "C",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675233.1:n.3040C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675321.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502751.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000502751.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3009,
          "referenceAllele": "C",
          "start": 3008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675325.1:n.3009C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675335.1:c.1244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502182.1:p.Pro415Leu",
        "hgvsWellDefined": "ENSP00000502182.1:p.Pro415Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2886,
          "referenceAllele": "C",
          "start": 2885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675400.1:n.2886C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1516,
          "referenceAllele": "C",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675406.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501893.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000501893.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675458.1:c.1306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501754.1:n.1306C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3009,
          "referenceAllele": "C",
          "start": 3008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675507.1:n.3009C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675535.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501667.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000501667.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3009,
          "referenceAllele": "C",
          "start": 3008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675566.1:n.3009C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4261,
          "referenceAllele": "C",
          "start": 4260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675602.1:n.4261C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675647.1:n.1518C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675711.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502485.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000502485.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675727.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501722.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000501722.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2847,
          "referenceAllele": "C",
          "start": 2846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675748.1:n.2847C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675765.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502640.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000502640.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675825.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502632.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000502632.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675877.1:n.1518C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3001,
          "referenceAllele": "C",
          "start": 3000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675893.1:c.*2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502001.1:n.*2282C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3009,
          "referenceAllele": "C",
          "start": 3008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675943.1:n.3009C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675979.1:c.*456C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502208.1:n.*456C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676044.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502378.1:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000502378.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3009,
          "referenceAllele": "C",
          "start": 3008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676086.1:n.3009C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3041,
          "referenceAllele": "C",
          "start": 3040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676121.1:n.3041C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676237.1:c.1114C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501828.1:p.Arg372Trp",
        "hgvsWellDefined": "ENSP00000501828.1:p.Arg372Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1203,
          "referenceAllele": "C",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676416.1:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501660.1:p.Arg291Trp",
        "hgvsWellDefined": "ENSP00000501660.1:p.Arg291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3009,
          "referenceAllele": "C",
          "start": 3008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676424.1:n.3009C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5682,
          "referenceAllele": "C",
          "start": 5681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676429.1:n.5682C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "C",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.9:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Arg405Trp",
        "hgvsWellDefined": "ENSP00000363779.5:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000537196.1:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439367.1:p.Arg56Trp",
        "hgvsWellDefined": "ENSP00000439367.1:p.Arg56Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645427302",
      "coordinates": [
        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.3:c.1213C>T",
        "LRG_251t1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Arg405Trp",
        "hgvsWellDefined": "NP_003631.2:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_005252285.2:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252342.1:p.Arg291Trp",
        "hgvsWellDefined": "XP_005252342.1:p.Arg291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.1:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Arg405Trp",
        "hgvsWellDefined": "XP_011517438.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519137.1:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517439.1:p.Arg291Trp",
        "hgvsWellDefined": "XP_011517439.1:p.Arg291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.1:n.1529C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125988"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826988314",
      "coordinates": [
        {
          "allele": "T",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.1:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Arg291Trp",
        "hgvsWellDefined": "NP_001305289.1:p.Arg291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028617",
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "referenceAllele": "C",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.1:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Arg56Trp",
        "hgvsWellDefined": "NP_001317678.1:p.Arg56Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645427302",
      "coordinates": [
        {
          "allele": "T",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.4:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Arg405Trp",
        "hgvsWellDefined": "NP_003631.2:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.2:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Arg405Trp",
        "hgvsWellDefined": "XP_011517438.1:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.3:n.1540C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645427302",
      "coordinates": [
        {
          "allele": "T",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.5:c.1213C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Arg405Trp",
        "hgvsWellDefined": "NP_003631.2:p.Arg405Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.1213C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.1213C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Arg405Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Arg405Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826988314",
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.2:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Arg291Trp",
        "hgvsWellDefined": "NP_001305289.1:p.Arg291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028617",
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.2:c.166C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Arg56Trp",
        "hgvsWellDefined": "NP_001317678.1:p.Arg56Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687100"
    }
  ],
  "type": "nucleotide"
}