{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA137145",
  "communityStandardTitle": [
    "NM_002230.4(JUP):c.1563A>G (p.Ala521=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55002[alleleid]",
        "alleleId": 55002,
        "preferredName": "NM_002230.4(JUP):c.1563A>G (p.Ala521=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45837",
        "RCV": [
          "RCV000039066",
          "RCV000230244",
          "RCV000244640",
          "RCV000263093",
          "RCV000329892",
          "RCV000769489",
          "RCV001528990"
        ],
        "variationId": 45837
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-39915057-T-C",
        "id": "17-39915057-T-C",
        "variant": "17:39915057 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39915057T>C?assembly=hg19",
        "id": "chr17:g.39915057T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41758805T>C?assembly=hg38",
        "id": "chr17:g.41758805T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149926974",
        "rs": 149926974
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39915057-T-C?dataset=gnomad_r2_1",
        "id": "17-39915057-T-C",
        "variant": "17:39915057 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41758805-T-C?dataset=gnomad_r3",
        "id": "17-41758805-T-C",
        "variant": "17:41758805 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41758805-T-C?dataset=gnomad_r4",
        "id": "17-41758805-T-C",
        "variant": "17:41758805 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41758805,
          "referenceAllele": "T",
          "start": 41758804
        }
      ],
      "hgvs": [
        "NC_000017.11:g.41758805T>C",
        "CM000679.2:g.41758805T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 39915057,
          "referenceAllele": "T",
          "start": 39915056
        }
      ],
      "hgvs": [
        "NC_000017.10:g.39915057T>C",
        "CM000679.1:g.39915057T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 37168583,
          "referenceAllele": "T",
          "start": 37168582
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37168583T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32908,
          "referenceAllele": "A",
          "start": 32907
        }
      ],
      "hgvs": [
        "NG_009090.2:g.32908A>G",
        "LRG_401:g.32908A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001423"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1695,
          "referenceAllele": "A",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.8:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1563A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1563A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Ala521="
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ala521="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1682,
          "referenceAllele": "A",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000310706.9:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311113.5:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1780,
          "referenceAllele": "A",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393930.5:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377507.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1682,
          "referenceAllele": "A",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000393931.7:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377508.3:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 161,
          "referenceAllele": "A",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "ENST00000585793.1:n.161A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388951"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368957",
      "coordinates": [
        {
          "allele": "G",
          "end": 1696,
          "referenceAllele": "A",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.2:c.1563A>G",
        "LRG_401t2:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991688",
      "coordinates": [
        {
          "allele": "G",
          "end": 1696,
          "referenceAllele": "A",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.2:c.1563A>G",
        "LRG_401t1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1804,
          "referenceAllele": "A",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721873.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721936.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1709,
          "referenceAllele": "A",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074293"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1778,
          "referenceAllele": "A",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721875.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721938.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1759,
          "referenceAllele": "A",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721878.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721941.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074295"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1987,
          "referenceAllele": "A",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1884,
          "referenceAllele": "A",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524754.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523056.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1691,
          "referenceAllele": "A",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524755.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523057.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1589,
          "referenceAllele": "A",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524756.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523058.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1585,
          "referenceAllele": "A",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524757.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523059.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1585,
          "referenceAllele": "A",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524758.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523060.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677951",
      "coordinates": [
        {
          "allele": "G",
          "end": 1774,
          "referenceAllele": "A",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678819",
      "coordinates": [
        {
          "allele": "G",
          "end": 1749,
          "referenceAllele": "A",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679686",
      "coordinates": [
        {
          "allele": "G",
          "end": 1771,
          "referenceAllele": "A",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680555",
      "coordinates": [
        {
          "allele": "G",
          "end": 1861,
          "referenceAllele": "A",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681423",
      "coordinates": [
        {
          "allele": "G",
          "end": 1764,
          "referenceAllele": "A",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368957",
      "coordinates": [
        {
          "allele": "G",
          "end": 1752,
          "referenceAllele": "A",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.3:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991688",
      "coordinates": [
        {
          "allele": "G",
          "end": 1752,
          "referenceAllele": "A",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.3:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1709,
          "referenceAllele": "A",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_006721874.3:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721937.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1982,
          "referenceAllele": "A",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_011524753.2:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523055.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1679,
          "referenceAllele": "A",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024588.2:c.1614A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880077.1:p.Ala538="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1585,
          "referenceAllele": "A",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "XM_017024590.1:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880079.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829368957",
      "coordinates": [
        {
          "allele": "G",
          "end": 1695,
          "referenceAllele": "A",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_002230.4:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002221.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393931.8:c.1563A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002230.4:c.1563A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377508.3:p.Ala521="
          },
          "RefSeq": {
            "hgvs": "NP_002221.1:p.Ala521="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827677951",
      "coordinates": [
        {
          "allele": "G",
          "end": 1717,
          "referenceAllele": "A",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352773.2:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339702.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827678819",
      "coordinates": [
        {
          "allele": "G",
          "end": 1692,
          "referenceAllele": "A",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352774.2:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339703.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827679686",
      "coordinates": [
        {
          "allele": "G",
          "end": 1714,
          "referenceAllele": "A",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352775.2:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339704.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827680555",
      "coordinates": [
        {
          "allele": "G",
          "end": 1804,
          "referenceAllele": "A",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352776.2:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339705.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827681423",
      "coordinates": [
        {
          "allele": "G",
          "end": 1645,
          "referenceAllele": "A",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_001352777.2:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339706.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991688",
      "coordinates": [
        {
          "allele": "G",
          "end": 1695,
          "referenceAllele": "A",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NM_021991.4:c.1563A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_068831.1:p.Ala521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728559"
    }
  ],
  "type": "nucleotide"
}