{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA143732",
  "communityStandardTitle": [
    "NM_005120.3(MED12):c.5185C>A (p.His1729Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59422[alleleid]",
        "alleleId": 59422,
        "preferredName": "NM_005120.3(MED12):c.5185C>A (p.His1729Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50281",
        "RCV": [
          "RCV000043501",
          "RCV001580268"
        ],
        "variationId": 50281
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.70356290C>A?assembly=hg19",
        "id": "chrX:g.70356290C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.71136440C>A?assembly=hg38",
        "id": "chrX:g.71136440C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907362",
        "rs": 387907362
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 71136440,
          "referenceAllele": "C",
          "start": 71136439
        }
      ],
      "hgvs": [
        "NC_000023.11:g.71136440C>A",
        "CM000685.2:g.71136440C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 70356290,
          "referenceAllele": "C",
          "start": 70356289
        }
      ],
      "hgvs": [
        "NC_000023.10:g.70356290C>A",
        "CM000685.1:g.70356290C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 70273015,
          "referenceAllele": "C",
          "start": 70273014
        }
      ],
      "hgvs": [
        "NC_000023.9:g.70273015C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22885,
          "referenceAllele": "C",
          "start": 22884
        }
      ],
      "hgvs": [
        "NG_012808.1:g.22885C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002546"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5224,
          "referenceAllele": "C",
          "start": 5223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000333646.11:c.5065C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333125.8:p.His1689Asn",
        "hgvsWellDefined": "ENSP00000333125.8:p.His1689Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5311,
          "referenceAllele": "C",
          "start": 5310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000374102.6:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363215.2:p.His1729Asn",
        "hgvsWellDefined": "ENSP00000363215.2:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 160,
          "referenceAllele": "C",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000444034.2:c.160C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404373.2:p.His54Asn",
        "hgvsWellDefined": "ENSP00000404373.2:p.His54Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1988,
          "referenceAllele": "C",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000685182.1:n.1988C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1562,
          "referenceAllele": "C",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000686169.1:n.1562C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5262,
          "referenceAllele": "C",
          "start": 5261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000686548.1:c.*5081C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509582.1:n.*5081C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000687161.1:n.1900C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5384,
          "referenceAllele": "C",
          "start": 5383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000687382.1:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510724.1:p.His1729Asn",
        "hgvsWellDefined": "ENSP00000510724.1:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1935,
          "referenceAllele": "C",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000687701.1:n.1935C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3180,
          "referenceAllele": "C",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000688079.1:n.3180C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "C",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000688508.1:n.736C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5388,
          "referenceAllele": "C",
          "start": 5387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000688663.1:c.*2106C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509348.1:n.*2106C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 160,
          "referenceAllele": "C",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000688774.1:c.160C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508823.1:p.His54Asn",
        "hgvsWellDefined": "ENSP00000508823.1:p.His54Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1839,
          "referenceAllele": "C",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000688881.1:n.1839C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000688993.1:n.1556C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3795,
          "referenceAllele": "C",
          "start": 3794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000689768.1:n.3795C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5215,
          "referenceAllele": "C",
          "start": 5214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000690145.1:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508818.1:p.His1729Asn",
        "hgvsWellDefined": "ENSP00000508818.1:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5397,
          "referenceAllele": "C",
          "start": 5396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000690242.1:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510090.1:p.His1729Asn",
        "hgvsWellDefined": "ENSP00000510090.1:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "C",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000690250.1:n.2854C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 160,
          "referenceAllele": "C",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000690807.1:c.160C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510476.1:p.His54Asn",
        "hgvsWellDefined": "ENSP00000510476.1:p.His54Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5441,
          "referenceAllele": "C",
          "start": 5440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000690828.1:n.5441C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3664,
          "referenceAllele": "C",
          "start": 3663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000691113.1:c.3664C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509755.1:n.3664C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4484,
          "referenceAllele": "C",
          "start": 4483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000691426.1:n.4484C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5163,
          "referenceAllele": "C",
          "start": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000691468.1:c.5134C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509011.1:p.His1712Asn",
        "hgvsWellDefined": "ENSP00000509011.1:p.His1712Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000691909.1:n.1905C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5397,
          "referenceAllele": "C",
          "start": 5396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000692304.1:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508427.1:p.His1729Asn",
        "hgvsWellDefined": "ENSP00000508427.1:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2494,
          "referenceAllele": "C",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000692893.1:n.2494C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "referenceAllele": "C",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000692964.1:n.2019C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5201,
          "referenceAllele": "C",
          "start": 5200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000693324.1:c.5149C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508643.1:p.His1717Asn",
        "hgvsWellDefined": "ENSP00000508643.1:p.His1717Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3130,
          "referenceAllele": "C",
          "start": 3129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000693391.1:c.3130C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509563.1:p.His1044Asn",
        "hgvsWellDefined": "ENSP00000509563.1:p.His1044Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5344,
          "referenceAllele": "C",
          "start": 5343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000374080.8:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363193.3:p.His1729Asn",
        "hgvsWellDefined": "ENSP00000363193.3:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374080.8:c.5185C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005120.3:c.5185C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363193.3:p.His1729Asn"
          },
          "RefSeq": {
            "hgvs": "NP_005111.2:p.His1729Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5384,
          "referenceAllele": "C",
          "start": 5383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000333646.10:c.4726C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333125.7:p.His1576Asn",
        "hgvsWellDefined": "ENSP00000333125.7:p.His1576Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5217,
          "referenceAllele": "C",
          "start": 5216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000374080.7:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363193.3:p.His1729Asn",
        "hgvsWellDefined": "ENSP00000363193.3:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5245,
          "referenceAllele": "C",
          "start": 5244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "ENST00000374102.5:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363215.1:p.His1729Asn",
        "hgvsWellDefined": "ENSP00000363215.1:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100084",
      "coordinates": [
        {
          "allele": "A",
          "end": 5384,
          "referenceAllele": "C",
          "start": 5383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "NM_005120.2:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005111.2:p.His1729Asn",
        "hgvsWellDefined": "NP_005111.2:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5384,
          "referenceAllele": "C",
          "start": 5383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "XM_005262317.1:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262374.1:p.His1729Asn",
        "hgvsWellDefined": "XP_005262374.1:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5384,
          "referenceAllele": "C",
          "start": 5383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "XM_005262319.1:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262376.1:p.His1729Asn",
        "hgvsWellDefined": "XP_005262376.1:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100084",
      "coordinates": [
        {
          "allele": "A",
          "end": 5344,
          "referenceAllele": "C",
          "start": 5343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011957",
      "geneNCBI_id": 9968,
      "geneSymbol": "MED12",
      "hgvs": [
        "NM_005120.3:c.5185C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005111.2:p.His1729Asn",
        "hgvsWellDefined": "NP_005111.2:p.His1729Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666828",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374080.8:c.5185C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005120.3:c.5185C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363193.3:p.His1729Asn"
          },
          "RefSeq": {
            "hgvs": "NP_005111.2:p.His1729Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}