{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10654765",
  "communityStandardTitle": [
    "NM_052867.4(NALCN):c.985A>G (p.Arg329Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=353906[alleleid]",
        "alleleId": 353906,
        "preferredName": "NM_052867.4(NALCN):c.985A>G (p.Arg329Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/369675",
        "RCV": [
          "RCV000408614"
        ],
        "variationId": 369675
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.101944403T>C?assembly=hg19",
        "id": "chr13:g.101944403T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.101292052T>C?assembly=hg38",
        "id": "chr13:g.101292052T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516040",
        "rs": 1057516040
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 101292052,
          "referenceAllele": "T",
          "start": 101292051
        }
      ],
      "hgvs": [
        "NC_000013.11:g.101292052T>C",
        "CM000675.2:g.101292052T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 101944403,
          "referenceAllele": "T",
          "start": 101944402
        }
      ],
      "hgvs": [
        "NC_000013.10:g.101944403T>C",
        "CM000675.1:g.101944403T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 100742404,
          "referenceAllele": "T",
          "start": 100742403
        }
      ],
      "hgvs": [
        "NC_000013.9:g.100742404T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 130155,
          "referenceAllele": "A",
          "start": 130154
        }
      ],
      "hgvs": [
        "NG_053176.1:g.130155A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1220,
          "referenceAllele": "A",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000251127.11:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251127.6:p.Arg329Gly",
        "hgvsWellDefined": "ENSP00000251127.6:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251127.11:c.985A>G"
          },
          "RefSeq": {
            "hgvs": "NM_052867.4:c.985A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251127.6:p.Arg329Gly"
          },
          "RefSeq": {
            "hgvs": "NP_443099.1:p.Arg329Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "A",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000648359.1:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497465.1:p.Arg329Gly",
        "hgvsWellDefined": "ENSP00000497465.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000674840.1:n.1083A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000674904.1:n.1065A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675150.1:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502680.1:p.Arg329Gly",
        "hgvsWellDefined": "ENSP00000502680.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1159,
          "referenceAllele": "A",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675332.1:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501955.1:p.Arg329Gly",
        "hgvsWellDefined": "ENSP00000501955.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "referenceAllele": "A",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675415.1:n.1168A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "A",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675594.1:c.*422A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502490.1:n.*422A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1080,
          "referenceAllele": "A",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000675802.1:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501818.1:p.Arg329Gly",
        "hgvsWellDefined": "ENSP00000501818.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "A",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000676315.1:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501603.1:p.Arg329Gly",
        "hgvsWellDefined": "ENSP00000501603.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1159,
          "referenceAllele": "A",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000676439.1:n.1159A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000251127.10:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251127.6:p.Arg329Gly",
        "hgvsWellDefined": "ENSP00000251127.6:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1081,
          "referenceAllele": "A",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000470333.1:n.1081A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "A",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "ENST00000497170.5:n.1139A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495474",
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "A",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.2:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Arg329Gly",
        "hgvsWellDefined": "NP_443099.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "A",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521067.1:c.1042A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519369.1:p.Arg348Gly",
        "hgvsWellDefined": "XP_011519369.1:p.Arg348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1081,
          "referenceAllele": "A",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521068.1:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519370.1:p.Arg329Gly",
        "hgvsWellDefined": "XP_011519370.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "A",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521069.1:c.1042A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519371.1:p.Arg348Gly",
        "hgvsWellDefined": "XP_011519371.1:p.Arg348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "A",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521070.1:c.1042A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519372.1:p.Arg348Gly",
        "hgvsWellDefined": "XP_011519372.1:p.Arg348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827568483",
      "coordinates": [
        {
          "allele": "G",
          "end": 1220,
          "referenceAllele": "A",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350748.1:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337677.1:p.Arg329Gly",
        "hgvsWellDefined": "NP_001337677.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827568835",
      "coordinates": [
        {
          "allele": "G",
          "end": 1097,
          "referenceAllele": "A",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350749.1:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337678.1:p.Arg329Gly",
        "hgvsWellDefined": "NP_001337678.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827569411",
      "coordinates": [
        {
          "allele": "G",
          "end": 1220,
          "referenceAllele": "A",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350750.1:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337679.1:p.Arg329Gly",
        "hgvsWellDefined": "NP_001337679.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827569978",
      "coordinates": [
        {
          "allele": "G",
          "end": 1097,
          "referenceAllele": "A",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.1:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:p.Arg329Gly",
        "hgvsWellDefined": "NP_001337680.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495474",
      "coordinates": [
        {
          "allele": "G",
          "end": 1220,
          "referenceAllele": "A",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.3:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Arg329Gly",
        "hgvsWellDefined": "NP_443099.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1114,
          "referenceAllele": "A",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521067.2:c.1042A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519369.1:p.Arg348Gly",
        "hgvsWellDefined": "XP_011519369.1:p.Arg348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1114,
          "referenceAllele": "A",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_011521069.2:c.1042A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519371.1:p.Arg348Gly",
        "hgvsWellDefined": "XP_011519371.1:p.Arg348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 929,
          "referenceAllele": "A",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_017020536.2:c.538A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876025.1:p.Arg180Gly",
        "hgvsWellDefined": "XP_016876025.1:p.Arg180Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 315,
          "referenceAllele": "A",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_017020537.1:c.220A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876026.1:p.Arg74Gly",
        "hgvsWellDefined": "XP_016876026.1:p.Arg74Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1114,
          "referenceAllele": "A",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "XM_024449336.1:c.1042A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305104.1:p.Arg348Gly",
        "hgvsWellDefined": "XP_024305104.1:p.Arg348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495474",
      "coordinates": [
        {
          "allele": "G",
          "end": 1220,
          "referenceAllele": "A",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_052867.4:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_443099.1:p.Arg329Gly",
        "hgvsWellDefined": "NP_443099.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251127.11:c.985A>G"
          },
          "RefSeq": {
            "hgvs": "NM_052867.4:c.985A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251127.6:p.Arg329Gly"
          },
          "RefSeq": {
            "hgvs": "NP_443099.1:p.Arg329Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827568483",
      "coordinates": [
        {
          "allele": "G",
          "end": 1220,
          "referenceAllele": "A",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350748.2:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337677.1:p.Arg329Gly",
        "hgvsWellDefined": "NP_001337677.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827568835",
      "coordinates": [
        {
          "allele": "G",
          "end": 1097,
          "referenceAllele": "A",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350749.2:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337678.1:p.Arg329Gly",
        "hgvsWellDefined": "NP_001337678.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827569411",
      "coordinates": [
        {
          "allele": "G",
          "end": 1220,
          "referenceAllele": "A",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350750.2:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337679.1:p.Arg329Gly",
        "hgvsWellDefined": "NP_001337679.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827569978",
      "coordinates": [
        {
          "allele": "G",
          "end": 1097,
          "referenceAllele": "A",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.2:c.985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:p.Arg329Gly",
        "hgvsWellDefined": "NP_001337680.1:p.Arg329Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688477"
    }
  ],
  "type": "nucleotide"
}