{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA17876266",
  "communityStandardTitle": [
    "NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34340[alleleid]",
        "alleleId": 34340,
        "preferredName": "NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1448395",
        "RCV": [
          "RCV001997114"
        ],
        "variationId": 1448395
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11082461G>A?assembly=hg19",
        "id": "chr1:g.11082461G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11022404G>A?assembly=hg38",
        "id": "chr1:g.11022404G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356728",
        "rs": 80356728
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11022404,
          "referenceAllele": "G",
          "start": 11022403
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11022404G>A",
        "CM000663.2:g.11022404G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11082461,
          "referenceAllele": "G",
          "start": 11082460
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11082461G>A",
        "CM000663.1:g.11082461G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11005048,
          "referenceAllele": "G",
          "start": 11005047
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11005048G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14783,
          "referenceAllele": "G",
          "start": 14782
        }
      ],
      "hgvs": [
        "NG_008734.1:g.14783G>A",
        "LRG_659:g.14783G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001192"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1396,
          "endIntronDirection": "-",
          "endIntronOffset": 210,
          "referenceAllele": "C",
          "start": 1396,
          "startIntronDirection": "-",
          "startIntronOffset": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006902",
      "geneNCBI_id": 10747,
      "geneSymbol": "MASP2",
      "hgvs": [
        "ENST00000700088.1:c.1397-211C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514787.1:n.1397-211C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000240185.8:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000240185.4:p.Ser332Asn",
        "hgvsWellDefined": "ENSP00000240185.4:p.Ser332Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000240185.8:c.995G>A"
          },
          "RefSeq": {
            "hgvs": "NM_007375.4:c.995G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000240185.4:p.Ser332Asn"
          },
          "RefSeq": {
            "hgvs": "NP_031401.1:p.Ser332Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000639083.1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491203.1:p.Ser332Asn",
        "hgvsWellDefined": "ENSP00000491203.1:p.Ser332Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "endIntronDirection": "+",
          "endIntronOffset": 163,
          "referenceAllele": "G",
          "start": 1026,
          "startIntronDirection": "+",
          "startIntronOffset": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000639599.1:c.832+163G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492196.1:n.832+163G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "G",
          "start": 768,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000649624.1:c.768+227G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497327.1:n.768+227G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000240185.7:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000240185.3:p.Ser332Asn",
        "hgvsWellDefined": "ENSP00000240185.3:p.Ser332Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 844,
          "endIntronDirection": "+",
          "endIntronOffset": 163,
          "referenceAllele": "G",
          "start": 844,
          "startIntronDirection": "+",
          "startIntronOffset": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000315091.7:c.832+163G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313129.3:n.832+163G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000439080.6:c.*576G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404666.3:n.*576G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "endIntronDirection": "+",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 853,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000473869.5:c.841+154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432132.1:n.841+154G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140,
          "endIntronDirection": "+",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 140,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000477447.6:c.140+154G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000610369.4:c.319+154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482559.1:n.319+154G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 163,
          "referenceAllele": "G",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 162
        }
      ],
      "hgvs": [
        "ENST00000611136.4:c.212+163G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "endIntronDirection": "+",
          "endIntronOffset": 163,
          "referenceAllele": "G",
          "start": 472,
          "startIntronDirection": "+",
          "startIntronOffset": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000611963.4:c.472+163G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481330.1:n.472+163G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "hgvs": [
        "ENST00000612542.1:c.107+154G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000614494.1:c.221+227G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "endIntronDirection": "+",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 935,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "hgvs": [
        "ENST00000614757.4:c.841+154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481867.1:n.841+154G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 841,
          "endIntronDirection": "+",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 841,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000616545.4:c.841+154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484722.1:n.841+154G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "endIntronDirection": "+",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 582,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000617172.4:c.582+154G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 392,
          "endIntronDirection": "+",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 392,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000619555.4:c.392+154G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000620505.1:c.97G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 392,
          "endIntronDirection": "+",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 392,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000620632.4:c.392+154G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "endIntronDirection": "+",
          "endIntronOffset": 136,
          "referenceAllele": "G",
          "start": 859,
          "startIntronDirection": "+",
          "startIntronOffset": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000621790.4:c.859+136G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482191.1:n.859+136G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 163,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000622057.4:c.579+163G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 975,
          "endIntronDirection": "+",
          "endIntronOffset": 154,
          "referenceAllele": "G",
          "start": 975,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000629725.2:c.841+154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486989.1:n.841+154G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113391",
      "coordinates": [
        {
          "allele": "A",
          "end": 1129,
          "referenceAllele": "G",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "NM_007375.3:c.995G>A",
        "LRG_659t1:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_031401.1:p.Ser332Asn",
        "hgvsWellDefined": "NP_031401.1:p.Ser332Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "G",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XR_946596.1:n.1117G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "G",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XR_946597.1:n.1117G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000863.2:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856352.1:p.Ser332Asn",
        "hgvsWellDefined": "XP_016856352.1:p.Ser332Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000864.2:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856353.1:p.Ser332Asn",
        "hgvsWellDefined": "XP_016856353.1:p.Ser332Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000865.2:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856354.1:p.Ser332Asn",
        "hgvsWellDefined": "XP_016856354.1:p.Ser332Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000866.2:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856355.1:p.Ser332Asn",
        "hgvsWellDefined": "XP_016856355.1:p.Ser332Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000867.2:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856356.1:p.Ser332Asn",
        "hgvsWellDefined": "XP_016856356.1:p.Ser332Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000868.2:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856357.1:p.Ser332Asn",
        "hgvsWellDefined": "XP_016856357.1:p.Ser332Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113391",
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "NM_007375.4:c.995G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_031401.1:p.Ser332Asn",
        "hgvsWellDefined": "NP_031401.1:p.Ser332Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000240185.8:c.995G>A"
          },
          "RefSeq": {
            "hgvs": "NM_007375.4:c.995G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000240185.4:p.Ser332Asn"
          },
          "RefSeq": {
            "hgvs": "NP_031401.1:p.Ser332Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}