{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA198617",
  "communityStandardTitle": [
    "NM_005957.5(MTHFR):c.1042C>T (p.Pro348Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=185776[alleleid]",
        "alleleId": 185776,
        "preferredName": "NM_005957.5(MTHFR):c.1042C>T (p.Pro348Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187887",
        "RCV": [
          "RCV000167607"
        ],
        "variationId": 187887
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11854910G>A?assembly=hg19",
        "id": "chr1:g.11854910G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11794853G>A?assembly=hg38",
        "id": "chr1:g.11794853G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786204021",
        "rs": 786204021
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11794853-G-A?dataset=gnomad_r4",
        "id": "1-11794853-G-A",
        "variant": "1:11794853 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11794853,
          "referenceAllele": "G",
          "start": 11794852
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11794853G>A",
        "CM000663.2:g.11794853G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11854910,
          "referenceAllele": "G",
          "start": 11854909
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11854910G>A",
        "CM000663.1:g.11854910G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11777497,
          "referenceAllele": "G",
          "start": 11777496
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11777497G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16251,
          "referenceAllele": "C",
          "start": 16250
        }
      ],
      "hgvs": [
        "NG_013351.1:g.16251C>T",
        "LRG_726:g.16251C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002803"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376585.6:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365770.1:p.Pro389Ser",
        "hgvsWellDefined": "ENSP00000365770.1:p.Pro389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376590.9:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365775.3:p.Pro348Ser",
        "hgvsWellDefined": "ENSP00000365775.3:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.1042C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.1042C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:p.Pro348Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:p.Pro348Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2492,
          "referenceAllele": "C",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376592.6:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365777.1:p.Pro348Ser",
        "hgvsWellDefined": "ENSP00000365777.1:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1174,
          "referenceAllele": "C",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000423400.7:c.1162C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398908.3:p.Pro388Ser",
        "hgvsWellDefined": "ENSP00000398908.3:p.Pro388Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "referenceAllele": "C",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641407.1:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493098.1:p.Pro348Ser",
        "hgvsWellDefined": "ENSP00000493098.1:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1170,
          "referenceAllele": "C",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641446.1:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493262.1:p.Pro348Ser",
        "hgvsWellDefined": "ENSP00000493262.1:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641747.1:c.*554C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493116.1:n.*554C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1411,
          "referenceAllele": "C",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641759.1:n.1411C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1559,
          "referenceAllele": "C",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641805.1:n.1559C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641820.1:c.307C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492937.1:p.Pro103Ser",
        "hgvsWellDefined": "ENSP00000492937.1:p.Pro103Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376583.7:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365767.3:p.Pro389Ser",
        "hgvsWellDefined": "ENSP00000365767.3:p.Pro389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376585.5:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365770.1:p.Pro389Ser",
        "hgvsWellDefined": "ENSP00000365770.1:p.Pro389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1226,
          "referenceAllele": "C",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376590.7:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365775.3:p.Pro348Ser",
        "hgvsWellDefined": "ENSP00000365775.3:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376592.5:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365777.1:p.Pro348Ser",
        "hgvsWellDefined": "ENSP00000365777.1:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA198619",
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "C",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.4:c.1042C>T",
        "LRG_726t1:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:p.Pro348Ser",
        "hgvsWellDefined": "NP_005948.3:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2108,
          "referenceAllele": "C",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263458.2:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263515.1:p.Pro389Ser",
        "hgvsWellDefined": "XP_005263515.1:p.Pro389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1713,
          "referenceAllele": "C",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.3:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:p.Pro348Ser",
        "hgvsWellDefined": "XP_005263517.1:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1581,
          "referenceAllele": "C",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263461.3:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263518.1:p.Pro348Ser",
        "hgvsWellDefined": "XP_005263518.1:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.3:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:p.Pro348Ser",
        "hgvsWellDefined": "XP_005263519.1:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.2:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:p.Pro266Ser",
        "hgvsWellDefined": "XP_005263520.1:p.Pro266Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "C",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.1:c.1162C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:p.Pro388Ser",
        "hgvsWellDefined": "XP_011539797.1:p.Pro388Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2108,
          "referenceAllele": "C",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.1:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:p.Pro389Ser",
        "hgvsWellDefined": "XP_011539798.1:p.Pro389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028018",
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "C",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.1:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Pro389Ser",
        "hgvsWellDefined": "NP_001317287.1:p.Pro389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1658,
          "referenceAllele": "C",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263460.5:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263517.1:p.Pro348Ser",
        "hgvsWellDefined": "XP_005263517.1:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263462.4:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263519.1:p.Pro348Ser",
        "hgvsWellDefined": "XP_005263519.1:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_005263463.4:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263520.1:p.Pro266Ser",
        "hgvsWellDefined": "XP_005263520.1:p.Pro266Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1909,
          "referenceAllele": "C",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541495.3:c.1162C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539797.1:p.Pro388Ser",
        "hgvsWellDefined": "XP_011539797.1:p.Pro388Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_011541496.3:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539798.1:p.Pro389Ser",
        "hgvsWellDefined": "XP_011539798.1:p.Pro389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_017001328.2:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856817.1:p.Pro389Ser",
        "hgvsWellDefined": "XP_016856817.1:p.Pro389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XM_024447198.1:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302966.1:p.Pro266Ser",
        "hgvsWellDefined": "XP_024302966.1:p.Pro266Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "referenceAllele": "C",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XR_002956640.1:n.2143C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA198619",
      "coordinates": [
        {
          "allele": "T",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.5:c.1042C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:p.Pro348Ser",
        "hgvsWellDefined": "NP_005948.3:p.Pro348Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376590.9:c.1042C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005957.5:c.1042C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:p.Pro348Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005948.3:p.Pro348Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028018",
      "coordinates": [
        {
          "allele": "T",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_001330358.2:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Pro389Ser",
        "hgvsWellDefined": "NP_001317287.1:p.Pro389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718659"
    }
  ],
  "type": "nucleotide"
}