{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16618453",
  "communityStandardTitle": [
    "NM_002047.4(GARS1):c.875T>C (p.Met292Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407125[alleleid]",
        "alleleId": 407125,
        "preferredName": "NM_002047.4(GARS1):c.875T>C (p.Met292Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421418",
        "RCV": [
          "RCV000483930"
        ],
        "variationId": 421418
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.30649340T>C?assembly=hg19",
        "id": "chr7:g.30649340T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.30609724T>C?assembly=hg38",
        "id": "chr7:g.30609724T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795123",
        "rs": 1064795123
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-30609724-T-C?dataset=gnomad_r4",
        "id": "7-30609724-T-C",
        "variant": "7:30609724 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 30609724,
          "referenceAllele": "T",
          "start": 30609723
        }
      ],
      "hgvs": [
        "NC_000007.14:g.30609724T>C",
        "CM000669.2:g.30609724T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 30649340,
          "referenceAllele": "T",
          "start": 30649339
        }
      ],
      "hgvs": [
        "NC_000007.13:g.30649340T>C",
        "CM000669.1:g.30649340T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 30615865,
          "referenceAllele": "T",
          "start": 30615864
        }
      ],
      "hgvs": [
        "NC_000007.12:g.30615865T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20160,
          "referenceAllele": "T",
          "start": 20159
        }
      ],
      "hgvs": [
        "NG_007942.1:g.20160T>C",
        "LRG_243:g.20160T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000710"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "T",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000389266.8:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373918.3:p.Met292Thr",
        "hgvsWellDefined": "ENSP00000373918.3:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389266.8:c.875T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002047.4:c.875T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373918.3:p.Met292Thr"
          },
          "RefSeq": {
            "hgvs": "NP_002038.2:p.Met292Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "T",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000444666.6:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415447.2:p.Met292Thr",
        "hgvsWellDefined": "ENSP00000415447.2:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "T",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000470392.2:n.965T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "referenceAllele": "T",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000478124.6:n.938T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 954,
          "referenceAllele": "T",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000485784.2:n.954T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1041,
          "referenceAllele": "T",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000674616.1:c.*589T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502408.1:n.*589T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "T",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000674643.1:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501636.1:p.Met292Thr",
        "hgvsWellDefined": "ENSP00000501636.1:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1371,
          "referenceAllele": "T",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000674734.1:n.1371T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774657"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 995,
          "referenceAllele": "T",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000674737.1:c.*213T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502464.1:n.*213T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "T",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000674807.1:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502814.1:p.Met292Thr",
        "hgvsWellDefined": "ENSP00000502814.1:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "referenceAllele": "T",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000674815.1:c.506T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502799.1:p.Met169Thr",
        "hgvsWellDefined": "ENSP00000502799.1:p.Met169Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 734,
          "referenceAllele": "T",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000674851.1:c.506T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502451.1:p.Met169Thr",
        "hgvsWellDefined": "ENSP00000502451.1:p.Met169Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2748,
          "referenceAllele": "T",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000674969.1:n.2748T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 711,
          "referenceAllele": "T",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000675051.1:c.674T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502296.1:p.Met225Thr",
        "hgvsWellDefined": "ENSP00000502296.1:p.Met225Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "referenceAllele": "T",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000675529.1:c.*745T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501655.1:n.*745T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 891,
          "referenceAllele": "T",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000675587.1:n.891T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "T",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000675651.1:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502513.1:p.Met292Thr",
        "hgvsWellDefined": "ENSP00000502513.1:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 751,
          "referenceAllele": "T",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000675693.1:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502174.1:p.Met236Thr",
        "hgvsWellDefined": "ENSP00000502174.1:p.Met236Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "T",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000675810.1:c.773T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502743.1:p.Met258Thr",
        "hgvsWellDefined": "ENSP00000502743.1:p.Met258Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "T",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000675859.1:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502033.1:p.Met292Thr",
        "hgvsWellDefined": "ENSP00000502033.1:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000675863.1:n.883T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6915,
          "referenceAllele": "T",
          "start": 6914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000675886.1:n.6915T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "T",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000676088.1:c.*817T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501884.1:n.*817T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775821"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "T",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000676140.1:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502571.1:p.Met292Thr",
        "hgvsWellDefined": "ENSP00000502571.1:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "T",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000676164.1:c.*326T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501986.1:n.*326T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "T",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000676210.1:c.*164T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502373.1:n.*164T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "referenceAllele": "T",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000676259.1:c.*307T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501980.1:n.*307T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775969"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 954,
          "referenceAllele": "T",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000676403.1:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502681.1:p.Met292Thr",
        "hgvsWellDefined": "ENSP00000502681.1:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1116,
          "referenceAllele": "T",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000389266.7:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373918.3:p.Met292Thr",
        "hgvsWellDefined": "ENSP00000373918.3:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "T",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "ENST00000478124.5:n.913T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826959081",
      "coordinates": [
        {
          "allele": "C",
          "end": 1062,
          "referenceAllele": "T",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "NM_001316772.1:c.713T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303701.1:p.Met238Thr",
        "hgvsWellDefined": "NP_001303701.1:p.Met238Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645398766",
      "coordinates": [
        {
          "allele": "C",
          "end": 1232,
          "referenceAllele": "T",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "NM_002047.2:c.875T>C",
        "LRG_243t1:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002038.2:p.Met292Thr",
        "hgvsWellDefined": "NP_002038.2:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645398766",
      "coordinates": [
        {
          "allele": "C",
          "end": 904,
          "referenceAllele": "T",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "NM_002047.3:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002038.2:p.Met292Thr",
        "hgvsWellDefined": "NP_002038.2:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027373"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "referenceAllele": "T",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "XM_006715686.1:c.506T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715749.1:p.Met169Thr",
        "hgvsWellDefined": "XP_006715749.1:p.Met169Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "XM_006715686.2:c.506T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715749.1:p.Met169Thr",
        "hgvsWellDefined": "XP_006715749.1:p.Met169Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645398766",
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "T",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "NM_002047.4:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002038.2:p.Met292Thr",
        "hgvsWellDefined": "NP_002038.2:p.Met292Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665317",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389266.8:c.875T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002047.4:c.875T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373918.3:p.Met292Thr"
          },
          "RefSeq": {
            "hgvs": "NP_002038.2:p.Met292Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}