{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA173968",
  "communityStandardTitle": [
    "NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=499",
        "active": true,
        "id": "COSM499"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=244958",
        "active": true,
        "id": "COSM244958"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=170209[alleleid]",
        "alleleId": 170209,
        "preferredName": "NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/160364",
        "RCV": [
          "RCV000148033",
          "RCV000157918",
          "RCV000418550",
          "RCV000437086",
          "RCV000662268",
          "RCV001813393",
          "RCV001844808"
        ],
        "variationId": 160364
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.533874T>C?assembly=hg19",
        "id": "chr11:g.533874T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.533874T>C?assembly=hg38",
        "id": "chr11:g.533874T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913233",
        "rs": 121913233
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 533874,
          "referenceAllele": "T",
          "start": 533873
        }
      ],
      "hgvs": [
        "NC_000011.10:g.533874T>C",
        "CM000673.2:g.533874T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 533874,
          "referenceAllele": "T",
          "start": 533873
        }
      ],
      "hgvs": [
        "NC_000011.9:g.533874T>C",
        "CM000673.1:g.533874T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 523874,
          "referenceAllele": "T",
          "start": 523873
        }
      ],
      "hgvs": [
        "NC_000011.8:g.523874T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6677,
          "referenceAllele": "A",
          "start": 6676
        }
      ],
      "hgvs": [
        "NG_007666.1:g.6677A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000669"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000397594.7:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380722.3:p.Gln61Arg",
        "hgvsWellDefined": "ENSP00000380722.3:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "A",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000417302.7:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388246.1:p.Gln61Arg",
        "hgvsWellDefined": "ENSP00000388246.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000417302.7:c.182A>G"
          },
          "RefSeq": {
            "hgvs": "NM_176795.5:c.182A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000388246.1:p.Gln61Arg"
          },
          "RefSeq": {
            "hgvs": "NP_789765.1:p.Gln61Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000417302.6:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388246.1:p.Gln61Arg",
        "hgvsWellDefined": "ENSP00000388246.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1221,
          "referenceAllele": "A",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000462734.2:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507303.1:p.Gln61Arg",
        "hgvsWellDefined": "ENSP00000507303.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "A",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000311189.8:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309845.7:p.Gln61Arg",
        "hgvsWellDefined": "ENSP00000309845.7:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311189.8:c.182A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005343.4:c.182A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309845.7:p.Gln61Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005334.1:p.Gln61Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 354,
          "referenceAllele": "A",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000311189.7:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309845.7:p.Gln61Arg",
        "hgvsWellDefined": "ENSP00000309845.7:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000397594.5:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380722.1:p.Gln61Arg",
        "hgvsWellDefined": "ENSP00000380722.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 318,
          "referenceAllele": "A",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000397596.6:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380723.2:p.Gln61Arg",
        "hgvsWellDefined": "ENSP00000380723.2:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000417302.5:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388246.1:p.Gln61Arg",
        "hgvsWellDefined": "ENSP00000388246.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000451590.5:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407586.1:p.Gln61Arg",
        "hgvsWellDefined": "ENSP00000407586.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "referenceAllele": "A",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000468682.2:n.670A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 103,
          "referenceAllele": "A",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000479482.1:n.103A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319852"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "ENST00000493230.5:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434023.1:p.Gln61Arg",
        "hgvsWellDefined": "ENSP00000434023.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579931372",
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "NM_001130442.1:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123914.1:p.Gln61Arg",
        "hgvsWellDefined": "NP_001123914.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA173969",
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "NM_005343.2:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005334.1:p.Gln61Arg",
        "hgvsWellDefined": "NP_005334.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030449"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658828623",
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "NM_176795.3:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_789765.1:p.Gln61Arg",
        "hgvsWellDefined": "NP_789765.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 4723,
          "referenceAllele": "T",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 4724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025430",
      "geneNCBI_id": 115399,
      "geneSymbol": "LRRC56",
      "hgvs": [
        "XM_011519875.1:c.-424-4724T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518177.1:n.-424-4724T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087045"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 5537,
          "referenceAllele": "T",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 5536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025430",
      "geneNCBI_id": 115399,
      "geneSymbol": "LRRC56",
      "hgvs": [
        "XM_011519877.1:c.-162+5537T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518179.1:n.-162+5537T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 381,
          "referenceAllele": "A",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "XR_242795.1:n.381A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579931372",
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "NM_001130442.2:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123914.1:p.Gln61Arg",
        "hgvsWellDefined": "NP_001123914.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "NM_001318054.1:c.-138A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304983.1:n.-138A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA173969",
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "NM_005343.3:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005334.1:p.Gln61Arg",
        "hgvsWellDefined": "NP_005334.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658828623",
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "NM_176795.4:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_789765.1:p.Gln61Arg",
        "hgvsWellDefined": "NP_789765.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 320,
          "endIntronDirection": "-",
          "endIntronOffset": 4723,
          "referenceAllele": "T",
          "start": 320,
          "startIntronDirection": "-",
          "startIntronOffset": 4724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025430",
      "geneNCBI_id": 115399,
      "geneSymbol": "LRRC56",
      "hgvs": [
        "XM_011519875.2:c.-424-4724T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518177.1:n.-424-4724T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 320,
          "endIntronDirection": "+",
          "endIntronOffset": 5537,
          "referenceAllele": "T",
          "start": 320,
          "startIntronDirection": "+",
          "startIntronOffset": 5536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025430",
      "geneNCBI_id": 115399,
      "geneSymbol": "LRRC56",
      "hgvs": [
        "XM_011519877.2:c.-162+5537T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518179.1:n.-162+5537T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 320,
          "endIntronDirection": "-",
          "endIntronOffset": 4648,
          "referenceAllele": "T",
          "start": 320,
          "startIntronDirection": "-",
          "startIntronOffset": 4649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025430",
      "geneNCBI_id": 115399,
      "geneSymbol": "LRRC56",
      "hgvs": [
        "XM_017017167.1:c.-499-4649T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872656.1:n.-499-4649T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 559,
          "endIntronDirection": "-",
          "endIntronOffset": 4648,
          "referenceAllele": "T",
          "start": 559,
          "startIntronDirection": "-",
          "startIntronOffset": 4649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025430",
      "geneNCBI_id": 115399,
      "geneSymbol": "LRRC56",
      "hgvs": [
        "XM_017017168.1:c.-499-4649T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872657.1:n.-499-4649T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA173969",
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "A",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "NM_005343.4:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005334.1:p.Gln61Arg",
        "hgvsWellDefined": "NP_005334.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311189.8:c.182A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005343.4:c.182A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309845.7:p.Gln61Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005334.1:p.Gln61Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "A",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "NM_001318054.2:c.-138A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304983.1:n.-138A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579931372",
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "A",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "NM_001130442.3:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123914.1:p.Gln61Arg",
        "hgvsWellDefined": "NP_001123914.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658828623",
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "A",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005173",
      "geneNCBI_id": 3265,
      "geneSymbol": "HRAS",
      "hgvs": [
        "NM_176795.5:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_789765.1:p.Gln61Arg",
        "hgvsWellDefined": "NP_789765.1:p.Gln61Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000417302.7:c.182A>G"
          },
          "RefSeq": {
            "hgvs": "NM_176795.5:c.182A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000388246.1:p.Gln61Arg"
          },
          "RefSeq": {
            "hgvs": "NP_789765.1:p.Gln61Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}