{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5174835",
  "communityStandardTitle": [
    "NM_003640.5(ELP1):c.1914G>A (p.Ala638=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=687339[alleleid]",
        "alleleId": 687339,
        "preferredName": "NM_003640.5(ELP1):c.1914G>A (p.Ala638=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/699933",
        "RCV": [
          "RCV000867920",
          "RCV001563846",
          "RCV004027708"
        ],
        "variationId": 699933
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-111663805-C-T",
        "id": "9-111663805-C-T",
        "variant": "9:111663805 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.111663805C>T?assembly=hg19",
        "id": "chr9:g.111663805C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.108901525C>T?assembly=hg38",
        "id": "chr9:g.108901525C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142096497",
        "rs": 142096497
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-111663805-C-T?dataset=gnomad_r2_1",
        "id": "9-111663805-C-T",
        "variant": "9:111663805 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108901525-C-T?dataset=gnomad_r3",
        "id": "9-108901525-C-T",
        "variant": "9:108901525 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108901525-C-T?dataset=gnomad_r4",
        "id": "9-108901525-C-T",
        "variant": "9:108901525 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 108901525,
          "referenceAllele": "C",
          "start": 108901524
        }
      ],
      "hgvs": [
        "NC_000009.12:g.108901525C>T",
        "CM000671.2:g.108901525C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 111663805,
          "referenceAllele": "C",
          "start": 111663804
        }
      ],
      "hgvs": [
        "NC_000009.11:g.111663805C>T",
        "CM000671.1:g.111663805C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 110703626,
          "referenceAllele": "C",
          "start": 110703625
        }
      ],
      "hgvs": [
        "NC_000009.10:g.110703626C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37804,
          "referenceAllele": "G",
          "start": 37803
        }
      ],
      "hgvs": [
        "NG_008788.1:g.37804G>A",
        "LRG_251:g.37804G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2230,
          "referenceAllele": "G",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.10:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.1914G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.1914G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Ala638="
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Ala638="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "G",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000495759.6:c.*524G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433514.2:n.*524G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674535.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502142.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674704.1:n.3721G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674836.1:n.2219G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674890.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501870.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2023,
          "referenceAllele": "G",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674938.1:c.1572G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502427.1:p.Ala524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2289,
          "referenceAllele": "G",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000674948.1:c.1572G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501602.1:p.Ala524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675052.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502664.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675078.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501549.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2033,
          "referenceAllele": "G",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675215.1:c.*1138G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502558.1:n.*1138G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3741,
          "referenceAllele": "G",
          "start": 3740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675233.1:n.3741G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1914,
          "referenceAllele": "G",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675321.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502751.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3710,
          "referenceAllele": "G",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675325.1:n.3710G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1945,
          "referenceAllele": "G",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675335.1:c.1945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502182.1:n.1945G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3587,
          "referenceAllele": "G",
          "start": 3586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675400.1:n.3587G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2217,
          "referenceAllele": "G",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675406.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501893.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2007,
          "referenceAllele": "G",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675458.1:c.2007G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501754.1:n.2007G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3710,
          "referenceAllele": "G",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675507.1:n.3710G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675535.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501667.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3710,
          "referenceAllele": "G",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675566.1:n.3710G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4962,
          "referenceAllele": "G",
          "start": 4961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675602.1:n.4962G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675647.1:n.2219G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1914,
          "referenceAllele": "G",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675711.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502485.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675727.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501722.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3548,
          "referenceAllele": "G",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675748.1:n.3548G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "G",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675765.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502640.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675825.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502632.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675877.1:n.2219G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3702,
          "referenceAllele": "G",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675893.1:c.*2983G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502001.1:n.*2983G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5529,
          "referenceAllele": "G",
          "start": 5528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675943.1:n.5529G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2128,
          "referenceAllele": "G",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000675979.1:c.*1157G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502208.1:n.*1157G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2219,
          "referenceAllele": "G",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676044.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502378.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3699,
          "referenceAllele": "G",
          "start": 3698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676086.1:n.3699G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3742,
          "referenceAllele": "G",
          "start": 3741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676121.1:n.3742G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2120,
          "referenceAllele": "G",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676237.1:c.1815G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501828.1:p.Ala605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1904,
          "referenceAllele": "G",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676416.1:c.1572G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501660.1:p.Ala524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3710,
          "referenceAllele": "G",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676424.1:n.3710G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6383,
          "referenceAllele": "G",
          "start": 6382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000676429.1:n.6383G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2222,
          "referenceAllele": "G",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000374647.9:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363779.5:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "ENST00000537196.1:c.867G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439367.1:p.Ala289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462474",
      "coordinates": [
        {
          "allele": "A",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.3:c.1914G>A",
        "LRG_251t1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2004,
          "referenceAllele": "G",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_005252285.2:c.1572G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252342.1:p.Ala524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2230,
          "referenceAllele": "G",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.1:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2004,
          "referenceAllele": "G",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519137.1:c.1572G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517439.1:p.Ala524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2230,
          "referenceAllele": "G",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.1:n.2230G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125988"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826988517",
      "coordinates": [
        {
          "allele": "A",
          "end": 2293,
          "referenceAllele": "G",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.1:c.1572G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Ala524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827346257",
      "coordinates": [
        {
          "allele": "A",
          "end": 2250,
          "referenceAllele": "G",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.1:c.867G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Ala289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462474",
      "coordinates": [
        {
          "allele": "A",
          "end": 2438,
          "referenceAllele": "G",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.4:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2241,
          "referenceAllele": "G",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.2:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2241,
          "referenceAllele": "G",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.3:n.2241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462474",
      "coordinates": [
        {
          "allele": "A",
          "end": 2230,
          "referenceAllele": "G",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.5:c.1914G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Ala638="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.1914G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.1914G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Ala638="
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Ala638="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826988517",
      "coordinates": [
        {
          "allele": "A",
          "end": 2085,
          "referenceAllele": "G",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.2:c.1572G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Ala524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827346257",
      "coordinates": [
        {
          "allele": "A",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.2:c.867G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Ala289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687100"
    }
  ],
  "type": "nucleotide"
}