{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6911912",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=334089[alleleid]",
        "alleleId": 334089,
        "preferredName": "NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/311562",
        "RCV": [
          "RCV000317718",
          "RCV000464896",
          "RCV000712962",
          "RCV001848106"
        ],
        "variationId": 311562
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-23929288-G-A",
        "id": "13-23929288-G-A",
        "variant": "13:23929288 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23929288G>A?assembly=hg19",
        "id": "chr13:g.23929288G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23355149G>A?assembly=hg38",
        "id": "chr13:g.23355149G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375875022",
        "rs": 375875022
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23929288-G-A?dataset=gnomad_r2_1",
        "id": "13-23929288-G-A",
        "variant": "13:23929288 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23355149-G-A?dataset=gnomad_r3",
        "id": "13-23355149-G-A",
        "variant": "13:23355149 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23355149-G-A?dataset=gnomad_r4",
        "id": "13-23355149-G-A",
        "variant": "13:23355149 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 23355149,
          "referenceAllele": "G",
          "start": 23355148
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23355149G>A",
        "CM000675.2:g.23355149G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 23929288,
          "referenceAllele": "G",
          "start": 23929287
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23929288G>A",
        "CM000675.1:g.23929288G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 22827288,
          "referenceAllele": "G",
          "start": 22827287
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22827288G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83554,
          "referenceAllele": "C",
          "start": 83553
        }
      ],
      "hgvs": [
        "NG_012342.1:g.83554C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000508399.1:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000507173.1:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1601,
          "referenceAllele": "C",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683154.1:n.1601C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000506739.1:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1583,
          "referenceAllele": "C",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:p.Pro485Leu",
        "hgvsWellDefined": "ENSP00000507624.1:p.Pro485Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1692,
          "referenceAllele": "C",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:p.Pro485Leu",
        "hgvsWellDefined": "ENSP00000507780.1:p.Pro485Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000508403.1:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000507223.1:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1606,
          "referenceAllele": "C",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:p.Pro485Leu",
        "hgvsWellDefined": "ENSP00000508262.1:p.Pro485Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3820,
          "referenceAllele": "C",
          "start": 3819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.3820C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000508121.1:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000507855.1:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000507057.1:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2052,
          "referenceAllele": "C",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000371729.3:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.1463C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.1463C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Pro488Leu"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Pro488Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2090,
          "referenceAllele": "C",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000390925.2:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2051,
          "referenceAllele": "C",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000406565.2:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000371729.3:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2078,
          "referenceAllele": "C",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Pro488Leu",
        "hgvsWellDefined": "ENSP00000371735.3:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.-788C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:n.-788C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:p.Pro112Leu",
        "hgvsWellDefined": "ENSP00000390925.1:p.Pro112Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "C",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.1161C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826576143",
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.1022C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Pro341Leu",
        "hgvsWellDefined": "NP_001264984.1:p.Pro341Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645437230",
      "coordinates": [
        {
          "allele": "T",
          "end": 2078,
          "referenceAllele": "C",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Pro488Leu",
        "hgvsWellDefined": "NP_055178.3:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2078,
          "referenceAllele": "C",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Pro488Leu",
        "hgvsWellDefined": "XP_005266395.1:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.1487C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Pro496Leu",
        "hgvsWellDefined": "XP_011533340.1:p.Pro496Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Pro485Leu",
        "hgvsWellDefined": "XP_011533341.1:p.Pro485Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2078,
          "referenceAllele": "C",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Pro488Leu",
        "hgvsWellDefined": "XP_005266395.1:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1686,
          "referenceAllele": "C",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Pro485Leu",
        "hgvsWellDefined": "XP_011533341.1:p.Pro485Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1686,
          "referenceAllele": "C",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Pro485Leu",
        "hgvsWellDefined": "XP_016876028.1:p.Pro485Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Pro488Leu",
        "hgvsWellDefined": "XP_024305105.1:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645437230",
      "coordinates": [
        {
          "allele": "T",
          "end": 2052,
          "referenceAllele": "C",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.1463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Pro488Leu",
        "hgvsWellDefined": "NP_055178.3:p.Pro488Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.1463C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.1463C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Pro488Leu"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Pro488Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826576143",
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.1022C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Pro341Leu",
        "hgvsWellDefined": "NP_001264984.1:p.Pro341Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}