{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA408974347",
  "communityStandardTitle": [
    "NM_001282531.3(ADNP):c.1180C>G (p.Leu394Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1018707[alleleid]",
        "alleleId": 1018707,
        "preferredName": "NM_001282531.3(ADNP):c.1180C>G (p.Leu394Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1030496",
        "RCV": [
          "RCV001332063"
        ],
        "variationId": 1030496
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.49510071G>C?assembly=hg19",
        "id": "chr20:g.49510071G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.50893534G>C?assembly=hg38",
        "id": "chr20:g.50893534G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143474358",
        "rs": 143474358
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-50893534-G-C?dataset=gnomad_r4",
        "id": "20-50893534-G-C",
        "variant": "20:50893534 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 50893534,
          "referenceAllele": "G",
          "start": 50893533
        }
      ],
      "hgvs": [
        "NC_000020.11:g.50893534G>C",
        "CM000682.2:g.50893534G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 49510071,
          "referenceAllele": "G",
          "start": 49510070
        }
      ],
      "hgvs": [
        "NC_000020.10:g.49510071G>C",
        "CM000682.1:g.49510071G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 48943478,
          "referenceAllele": "G",
          "start": 48943477
        }
      ],
      "hgvs": [
        "NC_000020.9:g.48943478G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42457,
          "referenceAllele": "C",
          "start": 42456
        }
      ],
      "hgvs": [
        "NG_034200.1:g.42457C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000349014.8:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342905.3:p.Leu394Val",
        "hgvsWellDefined": "ENSP00000342905.3:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2742,
          "referenceAllele": "C",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000371602.9:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360662.2:p.Leu394Val",
        "hgvsWellDefined": "ENSP00000360662.2:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000396029.8:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379346.3:p.Leu394Val",
        "hgvsWellDefined": "ENSP00000379346.3:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1781,
          "referenceAllele": "C",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000396032.8:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379349.2:p.Leu394Val",
        "hgvsWellDefined": "ENSP00000379349.2:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2056,
          "referenceAllele": "C",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000621696.5:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483881.1:p.Leu394Val",
        "hgvsWellDefined": "ENSP00000483881.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762339",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000621696.5:c.1180C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001282531.3:c.1180C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483881.1:p.Leu394Val"
          },
          "RefSeq": {
            "hgvs": "NP_001269460.1:p.Leu394Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "endIntronDirection": "-",
          "endIntronOffset": 3576,
          "referenceAllele": "C",
          "start": 288,
          "startIntronDirection": "-",
          "startIntronOffset": 3577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000644386.1:c.202-3577C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493755.1:n.202-3577C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1611,
          "referenceAllele": "C",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000645081.1:c.496C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495540.1:p.Leu166Val",
        "hgvsWellDefined": "ENSP00000495540.1:p.Leu166Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2015,
          "referenceAllele": "C",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000673732.1:c.1396C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501294.1:p.Leu466Val",
        "hgvsWellDefined": "ENSP00000501294.1:p.Leu466Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000349014.7:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342905.3:p.Leu394Val",
        "hgvsWellDefined": "ENSP00000342905.3:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1500,
          "referenceAllele": "C",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000371602.8:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360662.2:p.Leu394Val",
        "hgvsWellDefined": "ENSP00000360662.2:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1775,
          "referenceAllele": "C",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000396029.7:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379346.3:p.Leu394Val",
        "hgvsWellDefined": "ENSP00000379346.3:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1350,
          "referenceAllele": "C",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000396032.7:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379349.2:p.Leu394Val",
        "hgvsWellDefined": "ENSP00000379349.2:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "ENST00000621696.4:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483881.1:p.Leu394Val",
        "hgvsWellDefined": "ENSP00000483881.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649138",
      "coordinates": [
        {
          "allele": "G",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282531.1:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269460.1:p.Leu394Val",
        "hgvsWellDefined": "NP_001269460.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649671",
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282532.1:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269461.1:p.Leu394Val",
        "hgvsWellDefined": "NP_001269461.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829813725",
      "coordinates": [
        {
          "allele": "G",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_015339.3:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056154.1:p.Leu394Val",
        "hgvsWellDefined": "NP_056154.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499301904",
      "coordinates": [
        {
          "allele": "G",
          "end": 1350,
          "referenceAllele": "C",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_181442.2:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852107.1:p.Leu394Val",
        "hgvsWellDefined": "NP_852107.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528747.1:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527049.1:p.Leu394Val",
        "hgvsWellDefined": "XP_011527049.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1275,
          "referenceAllele": "C",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528748.1:c.1207C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527050.1:p.Leu403Val",
        "hgvsWellDefined": "XP_011527050.1:p.Leu403Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649138",
      "coordinates": [
        {
          "allele": "G",
          "end": 1832,
          "referenceAllele": "C",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282531.2:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269460.1:p.Leu394Val",
        "hgvsWellDefined": "NP_001269460.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827400102",
      "coordinates": [
        {
          "allele": "G",
          "end": 1657,
          "referenceAllele": "C",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001347511.1:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334440.1:p.Leu394Val",
        "hgvsWellDefined": "NP_001334440.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829813725",
      "coordinates": [
        {
          "allele": "G",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_015339.4:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056154.1:p.Leu394Val",
        "hgvsWellDefined": "NP_056154.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499301904",
      "coordinates": [
        {
          "allele": "G",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_181442.3:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852107.1:p.Leu394Val",
        "hgvsWellDefined": "NP_852107.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528747.2:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527049.1:p.Leu394Val",
        "hgvsWellDefined": "XP_011527049.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_011528748.2:c.1207C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527050.1:p.Leu403Val",
        "hgvsWellDefined": "XP_011527050.1:p.Leu403Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2415,
          "referenceAllele": "C",
          "start": 2414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_017027758.1:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883247.1:p.Leu394Val",
        "hgvsWellDefined": "XP_016883247.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1285,
          "referenceAllele": "C",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "XM_017027759.1:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883248.1:p.Leu394Val",
        "hgvsWellDefined": "XP_016883248.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649138",
      "coordinates": [
        {
          "allele": "G",
          "end": 2056,
          "referenceAllele": "C",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282531.3:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269460.1:p.Leu394Val",
        "hgvsWellDefined": "NP_001269460.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000621696.5:c.1180C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001282531.3:c.1180C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483881.1:p.Leu394Val"
          },
          "RefSeq": {
            "hgvs": "NP_001269460.1:p.Leu394Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827400102",
      "coordinates": [
        {
          "allele": "G",
          "end": 1881,
          "referenceAllele": "C",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001347511.2:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334440.1:p.Leu394Val",
        "hgvsWellDefined": "NP_001334440.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829813725",
      "coordinates": [
        {
          "allele": "G",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_015339.5:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056154.1:p.Leu394Val",
        "hgvsWellDefined": "NP_056154.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499301904",
      "coordinates": [
        {
          "allele": "G",
          "end": 1797,
          "referenceAllele": "C",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_181442.4:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_852107.1:p.Leu394Val",
        "hgvsWellDefined": "NP_852107.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826649671",
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NM_001282532.2:c.1180C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269461.1:p.Leu394Val",
        "hgvsWellDefined": "NP_001269461.1:p.Leu394Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715832"
    }
  ],
  "type": "nucleotide"
}