{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9821134",
  "communityStandardTitle": [
    "NM_000687.4(AHCY):c.112C>T (p.Arg38Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5741841"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=470350[alleleid]",
        "alleleId": 470350,
        "preferredName": "NM_000687.4(AHCY):c.112C>T (p.Arg38Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471682",
        "RCV": [
          "RCV000529181"
        ],
        "variationId": 471682
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-32883308-G-A",
        "id": "20-32883308-G-A",
        "variant": "20:32883308 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.32883308G>A?assembly=hg19",
        "id": "chr20:g.32883308G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.34295502G>A?assembly=hg38",
        "id": "chr20:g.34295502G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13043752",
        "rs": 13043752
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-32883308-G-A?dataset=gnomad_r2_1",
        "id": "20-32883308-G-A",
        "variant": "20:32883308 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-34295502-G-A?dataset=gnomad_r3",
        "id": "20-34295502-G-A",
        "variant": "20:34295502 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-34295502-G-A?dataset=gnomad_r4",
        "id": "20-34295502-G-A",
        "variant": "20:34295502 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 34295502,
          "referenceAllele": "G",
          "start": 34295501
        }
      ],
      "hgvs": [
        "NC_000020.11:g.34295502G>A",
        "CM000682.2:g.34295502G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 32883308,
          "referenceAllele": "G",
          "start": 32883307
        }
      ],
      "hgvs": [
        "NC_000020.10:g.32883308G>A",
        "CM000682.1:g.32883308G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 32346969,
          "referenceAllele": "G",
          "start": 32346968
        }
      ],
      "hgvs": [
        "NC_000020.9:g.32346969G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21301,
          "referenceAllele": "C",
          "start": 21300
        }
      ],
      "hgvs": [
        "NG_012630.1:g.21301C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21301,
          "referenceAllele": "C",
          "start": 21300
        }
      ],
      "hgvs": [
        "NG_012630.2:g.21301C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673604"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "ENST00000217426.7:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217426.2:p.Arg38Trp",
        "hgvsWellDefined": "ENSP00000217426.2:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740369",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217426.7:c.112C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000687.4:c.112C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217426.2:p.Arg38Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000678.1:p.Arg38Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "C",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "ENST00000217426.6:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217426.2:p.Arg38Trp",
        "hgvsWellDefined": "ENSP00000217426.2:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "ENST00000468908.1:n.275C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "ENST00000473516.1:n.415C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "ENST00000480653.5:n.159C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "ENST00000538132.1:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442820.1:p.Arg10Trp",
        "hgvsWellDefined": "ENSP00000442820.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 199,
          "referenceAllele": "C",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "ENST00000606061.1:n.199C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658661630",
      "coordinates": [
        {
          "allele": "T",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_000687.2:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000678.1:p.Arg38Trp",
        "hgvsWellDefined": "NP_000678.1:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825915623",
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001161766.1:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155238.1:p.Arg10Trp",
        "hgvsWellDefined": "NP_001155238.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_005260316.3:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260373.1:p.Arg10Trp",
        "hgvsWellDefined": "XP_005260373.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 475,
          "referenceAllele": "C",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_005260317.1:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260374.1:p.Arg10Trp",
        "hgvsWellDefined": "XP_005260374.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "referenceAllele": "C",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_011528656.1:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526958.1:p.Arg10Trp",
        "hgvsWellDefined": "XP_011526958.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "referenceAllele": "C",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_011528657.1:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526959.1:p.Arg10Trp",
        "hgvsWellDefined": "XP_011526959.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "referenceAllele": "C",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_011528658.1:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526960.1:p.Arg10Trp",
        "hgvsWellDefined": "XP_011526960.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_011528659.1:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526961.1:p.Arg10Trp",
        "hgvsWellDefined": "XP_011526961.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_011528660.1:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526962.1:p.Arg10Trp",
        "hgvsWellDefined": "XP_011526962.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095731"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658661630",
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_000687.3:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000678.1:p.Arg38Trp",
        "hgvsWellDefined": "NP_000678.1:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827143059",
      "coordinates": [
        {
          "allele": "T",
          "end": 1333,
          "referenceAllele": "C",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001322084.1:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309013.1:p.Arg10Trp",
        "hgvsWellDefined": "NP_001309013.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827143227",
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001322085.1:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309014.1:p.Arg10Trp",
        "hgvsWellDefined": "NP_001309014.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026521",
      "coordinates": [
        {
          "allele": "T",
          "end": 1344,
          "referenceAllele": "C",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001322086.1:c.118C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309015.1:p.Arg40Trp",
        "hgvsWellDefined": "NP_001309015.1:p.Arg40Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828064288",
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001362750.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349679.1:p.Arg38Trp",
        "hgvsWellDefined": "NP_001349679.1:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_005260317.2:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260374.1:p.Arg10Trp",
        "hgvsWellDefined": "XP_005260374.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "C",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_011528656.3:c.118C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526958.2:p.Arg40Trp",
        "hgvsWellDefined": "XP_011526958.2:p.Arg40Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "C",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_011528657.2:c.118C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526959.2:p.Arg40Trp",
        "hgvsWellDefined": "XP_011526959.2:p.Arg40Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "C",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_011528658.3:c.118C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526960.2:p.Arg40Trp",
        "hgvsWellDefined": "XP_011526960.2:p.Arg40Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_017027709.2:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883198.1:p.Arg38Trp",
        "hgvsWellDefined": "XP_016883198.1:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "referenceAllele": "C",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "XM_017027710.2:c.-313C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883199.1:n.-313C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658661630",
      "coordinates": [
        {
          "allele": "T",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_000687.4:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000678.1:p.Arg38Trp",
        "hgvsWellDefined": "NP_000678.1:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662532",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217426.7:c.112C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000687.4:c.112C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217426.2:p.Arg38Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000678.1:p.Arg38Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827143059",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001322084.2:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309013.1:p.Arg10Trp",
        "hgvsWellDefined": "NP_001309013.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827143227",
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "C",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001322085.2:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309014.1:p.Arg10Trp",
        "hgvsWellDefined": "NP_001309014.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026521",
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "C",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001322086.2:c.118C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309015.1:p.Arg40Trp",
        "hgvsWellDefined": "NP_001309015.1:p.Arg40Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685646"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828064288",
      "coordinates": [
        {
          "allele": "T",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001362750.2:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349679.1:p.Arg38Trp",
        "hgvsWellDefined": "NP_001349679.1:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690525"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825915623",
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NM_001161766.2:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155238.1:p.Arg10Trp",
        "hgvsWellDefined": "NP_001155238.1:p.Arg10Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713015"
    }
  ],
  "type": "nucleotide"
}