{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5174428",
  "communityStandardTitle": [
    "NM_003640.5(ELP1):c.3144C>T (p.Leu1048=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=900826[alleleid]",
        "alleleId": 900826,
        "preferredName": "NM_003640.5(ELP1):c.3144C>T (p.Leu1048=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/913167",
        "RCV": [
          "RCV001166667",
          "RCV002067812"
        ],
        "variationId": 913167
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-111653499-G-A",
        "id": "9-111653499-G-A",
        "variant": "9:111653499 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.111653499G>A?assembly=hg19",
        "id": "chr9:g.111653499G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.108891219G>A?assembly=hg38",
        "id": "chr9:g.108891219G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764867856",
        "rs": 764867856
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-111653499-G-A?dataset=gnomad_r2_1",
        "id": "9-111653499-G-A",
        "variant": "9:111653499 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108891219-G-A?dataset=gnomad_r3",
        "id": "9-108891219-G-A",
        "variant": "9:108891219 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108891219-G-A?dataset=gnomad_r4",
        "id": "9-108891219-G-A",
        "variant": "9:108891219 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 108891219,
          "referenceAllele": "G",
          "start": 108891218
        }
      ],
      "hgvs": [
        "NC_000009.12:g.108891219G>A",
        "CM000671.2:g.108891219G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 111653499,
          "referenceAllele": "G",
          "start": 111653498
        }
      ],
      "hgvs": [
        "NC_000009.11:g.111653499G>A",
        "CM000671.1:g.111653499G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 110693320,
          "referenceAllele": "G",
          "start": 110693319
        }
      ],
      "hgvs": [
        "NC_000009.10:g.110693320G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48110,
          "referenceAllele": "C",
          "start": 48109
        }
      ],
      "hgvs": [
        "NG_008788.1:g.48110C>T",
        "LRG_251:g.48110C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3460,
          "referenceAllele": "C",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.10:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.3144C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.3144C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Leu1048="
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Leu1048="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2641,
          "referenceAllele": "C",
          "start": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000495759.6:c.*1754C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433514.2:n.*1754C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3449,
          "referenceAllele": "C",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674535.1:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502142.1:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6229,
          "referenceAllele": "C",
          "start": 6228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674704.1:n.6229C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3757,
          "referenceAllele": "C",
          "start": 3756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674836.1:n.3757C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3471,
          "referenceAllele": "C",
          "start": 3470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674890.1:c.*379C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501870.1:n.*379C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3253,
          "referenceAllele": "C",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674938.1:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502427.1:p.Leu934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3519,
          "referenceAllele": "C",
          "start": 3518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674948.1:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501602.1:p.Leu934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3449,
          "referenceAllele": "C",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675052.1:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502664.1:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3449,
          "referenceAllele": "C",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675078.1:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501549.1:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3263,
          "referenceAllele": "C",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675215.1:c.*2368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502558.1:n.*2368C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4971,
          "referenceAllele": "C",
          "start": 4970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675233.1:n.4971C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3144,
          "referenceAllele": "C",
          "start": 3143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675321.1:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502751.1:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5101,
          "referenceAllele": "C",
          "start": 5100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675325.1:n.5101C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3175,
          "referenceAllele": "C",
          "start": 3174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675335.1:c.3175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502182.1:n.3175C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4879,
          "referenceAllele": "C",
          "start": 4878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675400.1:n.4879C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3447,
          "referenceAllele": "C",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675406.1:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501893.1:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3237,
          "referenceAllele": "C",
          "start": 3236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675458.1:c.3237C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501754.1:n.3237C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4940,
          "referenceAllele": "C",
          "start": 4939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675507.1:n.4940C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3509,
          "referenceAllele": "C",
          "start": 3508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675535.1:c.*771C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501667.1:n.*771C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5002,
          "referenceAllele": "C",
          "start": 5001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675566.1:n.5002C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6192,
          "referenceAllele": "C",
          "start": 6191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675602.1:n.6192C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4308,
          "referenceAllele": "C",
          "start": 4307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675647.1:n.4308C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3144,
          "referenceAllele": "C",
          "start": 3143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675711.1:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502485.1:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3449,
          "referenceAllele": "C",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675727.1:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501722.1:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4778,
          "referenceAllele": "C",
          "start": 4777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675748.1:n.4778C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3520,
          "referenceAllele": "C",
          "start": 3519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675765.1:c.*527C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502640.1:n.*527C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3449,
          "referenceAllele": "C",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675825.1:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502632.1:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3449,
          "referenceAllele": "C",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675877.1:n.3449C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4932,
          "referenceAllele": "C",
          "start": 4931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675893.1:c.*4213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502001.1:n.*4213C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6759,
          "referenceAllele": "C",
          "start": 6758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675943.1:n.6759C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3358,
          "referenceAllele": "C",
          "start": 3357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675979.1:c.*2387C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502208.1:n.*2387C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3548,
          "referenceAllele": "C",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676044.1:c.*804C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502378.1:n.*804C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4929,
          "referenceAllele": "C",
          "start": 4928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676086.1:n.4929C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4972,
          "referenceAllele": "C",
          "start": 4971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676121.1:n.4972C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3350,
          "referenceAllele": "C",
          "start": 3349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676237.1:c.3045C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501828.1:p.Leu1015="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676416.1:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501660.1:p.Leu934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4940,
          "referenceAllele": "C",
          "start": 4939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676424.1:n.4940C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7613,
          "referenceAllele": "C",
          "start": 7612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676429.1:n.7613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3452,
          "referenceAllele": "C",
          "start": 3451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.9:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "referenceAllele": "C",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000495759.5:c.284C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2494,
          "referenceAllele": "C",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000537196.1:c.2097C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439367.1:p.Leu699="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462777",
      "coordinates": [
        {
          "allele": "T",
          "end": 3664,
          "referenceAllele": "C",
          "start": 3663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.3:c.3144C>T",
        "LRG_251t1:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_005252285.2:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252342.1:p.Leu934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3460,
          "referenceAllele": "C",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.1:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "referenceAllele": "C",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519137.1:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517439.1:p.Leu934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826988859",
      "coordinates": [
        {
          "allele": "T",
          "end": 3523,
          "referenceAllele": "C",
          "start": 3522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.1:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Leu934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827346862",
      "coordinates": [
        {
          "allele": "T",
          "end": 3480,
          "referenceAllele": "C",
          "start": 3479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.1:c.2097C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Leu699="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462777",
      "coordinates": [
        {
          "allele": "T",
          "end": 3668,
          "referenceAllele": "C",
          "start": 3667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.4:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3471,
          "referenceAllele": "C",
          "start": 3470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.2:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3533,
          "referenceAllele": "C",
          "start": 3532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.3:n.3533C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462777",
      "coordinates": [
        {
          "allele": "T",
          "end": 3460,
          "referenceAllele": "C",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.5:c.3144C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Leu1048="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.3144C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.3144C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Leu1048="
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Leu1048="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826988859",
      "coordinates": [
        {
          "allele": "T",
          "end": 3315,
          "referenceAllele": "C",
          "start": 3314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.2:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Leu934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827346862",
      "coordinates": [
        {
          "allele": "T",
          "end": 3272,
          "referenceAllele": "C",
          "start": 3271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.2:c.2097C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Leu699="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687100"
    }
  ],
  "type": "nucleotide"
}