{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA470392796",
  "communityStandardTitle": [
    "NM_033022.4(RPS24):c.348A>G (p.Lys116=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2931087[alleleid]",
        "alleleId": 2931087,
        "preferredName": "NM_033022.4(RPS24):c.348A>G (p.Lys116=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2762593",
        "RCV": [
          "RCV003507739"
        ],
        "variationId": 2762593
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.79797020A>G?assembly=hg19",
        "id": "chr10:g.79797020A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1589328276",
        "rs": 1589328276
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 78037262,
          "referenceAllele": "A",
          "start": 78037261
        }
      ],
      "hgvs": [
        "NC_000010.11:g.78037262A>G",
        "CM000672.2:g.78037262A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 79797020,
          "referenceAllele": "A",
          "start": 79797019
        }
      ],
      "hgvs": [
        "NC_000010.10:g.79797020A>G",
        "CM000672.1:g.79797020A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 79467026,
          "referenceAllele": "A",
          "start": 79467025
        }
      ],
      "hgvs": [
        "NC_000010.9:g.79467026A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8503,
          "referenceAllele": "A",
          "start": 8502
        }
      ],
      "hgvs": [
        "NG_012633.1:g.8503A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002488"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000360830.9:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354074.5:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000372360.9:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361435.4:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750986",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372360.9:c.348A>G"
          },
          "RefSeq": {
            "hgvs": "NM_033022.4:c.348A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361435.4:p.Lys116="
          },
          "RefSeq": {
            "hgvs": "NP_148982.1:p.Lys116="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000440692.6:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414321.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000464716.6:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494231.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756809"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "A",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000465692.2:n.359A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "A",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000476545.6:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494169.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000478655.6:n.387A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000485708.7:n.387A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000613865.5:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478869.2:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 224,
          "referenceAllele": "A",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000645195.1:c.224A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "A",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000645440.1:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496738.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "A",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000645698.1:n.376A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 367,
          "referenceAllele": "A",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000360830.8:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354074.4:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "A",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000372360.7:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361435.3:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269056"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000435275.5:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415549.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000440692.5:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414321.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "A",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000464716.5:n.376A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "A",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000465692.1:n.345A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "referenceAllele": "A",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000476545.5:n.372A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000478655.5:n.387A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "referenceAllele": "A",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000482069.5:n.415A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 406,
          "referenceAllele": "A",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000485708.6:n.406A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "ENST00000613865.4:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478869.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825299559",
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_001026.4:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008904"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825839423",
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_001142282.1:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135754.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825839572",
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_001142283.1:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135755.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012802"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825839701",
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_001142284.1:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135756.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825839845",
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_001142285.1:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135757.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830115916",
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_033022.3:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_148982.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "XM_011540034.1:c.501A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538336.1:p.Lys167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "XM_011540035.1:c.501A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538337.1:p.Lys167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "XM_011540036.1:c.501A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538338.1:p.Lys167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "XM_011540037.1:c.501A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538339.1:p.Lys167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "XM_011540038.1:c.501A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538340.1:p.Lys167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106988"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825839845",
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_001142285.2:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135757.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830115916",
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_033022.4:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_148982.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699247",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372360.9:c.348A>G"
          },
          "RefSeq": {
            "hgvs": "NM_033022.4:c.348A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361435.4:p.Lys116="
          },
          "RefSeq": {
            "hgvs": "NP_148982.1:p.Lys116="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825299559",
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_001026.5:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825839423",
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_001142282.2:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135754.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825839572",
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_001142283.2:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135755.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825839701",
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010411",
      "geneNCBI_id": 6229,
      "geneSymbol": "RPS24",
      "hgvs": [
        "NM_001142284.2:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135756.1:p.Lys116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712542"
    }
  ],
  "type": "nucleotide"
}