{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372485735",
  "communityStandardTitle": [
    "NM_078480.3(PUF60):c.1448T>C (p.Val483Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=590430[alleleid]",
        "alleleId": 590430,
        "preferredName": "NM_078480.3(PUF60):c.1448T>C (p.Val483Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/599208",
        "RCV": [
          "RCV000735801"
        ],
        "variationId": 599208
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143816752A>G?assembly=hg38",
        "id": "chr8:g.143816752A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1563818514",
        "rs": 1563818514
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 143816752,
          "referenceAllele": "A",
          "start": 143816751
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143816752A>G",
        "CM000670.2:g.143816752A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 144970910,
          "referenceAllele": "A",
          "start": 144970909
        }
      ],
      "hgvs": [
        "NC_000008.9:g.144970910A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3628,
          "referenceAllele": "T",
          "start": 3627
        }
      ],
      "hgvs": [
        "NG_030583.1:g.3628T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17635,
          "referenceAllele": "T",
          "start": 17634
        }
      ],
      "hgvs": [
        "NG_033879.1:g.17635T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2146,
          "referenceAllele": "T",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000524570.6:n.2146T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3503,
          "referenceAllele": "T",
          "start": 3502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000526151.6:n.3503T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1429,
          "referenceAllele": "T",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000526459.6:c.1394T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432610.2:p.Val465Ala",
        "hgvsWellDefined": "ENSP00000432610.2:p.Val465Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1511,
          "referenceAllele": "T",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000527744.6:c.1445T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436131.2:p.Val482Ala",
        "hgvsWellDefined": "ENSP00000436131.2:p.Val482Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1608,
          "referenceAllele": "T",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000531951.6:c.1319T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515500.1:p.Val440Ala",
        "hgvsWellDefined": "ENSP00000515500.1:p.Val440Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1699,
          "referenceAllele": "T",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000532127.6:c.*1293T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515484.1:n.*1293T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1635,
          "referenceAllele": "T",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000533162.2:c.1559T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433403.2:p.Val520Ala",
        "hgvsWellDefined": "ENSP00000433403.2:p.Val520Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905731"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1767,
          "referenceAllele": "T",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000533362.2:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515502.1:p.Val508Ala",
        "hgvsWellDefined": "ENSP00000515502.1:p.Val508Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2159,
          "referenceAllele": "T",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000703744.1:n.2159T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1713,
          "referenceAllele": "T",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000703803.1:n.1713T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1488,
          "referenceAllele": "T",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000703846.1:c.1319T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515498.1:p.Val440Ala",
        "hgvsWellDefined": "ENSP00000515498.1:p.Val440Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911968"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1797,
          "referenceAllele": "T",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000703847.1:c.1559T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515499.1:p.Val520Ala",
        "hgvsWellDefined": "ENSP00000515499.1:p.Val520Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911969"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "referenceAllele": "T",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000703848.1:n.1479T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911970"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1615,
          "referenceAllele": "T",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000703849.1:c.1319T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515501.1:p.Val440Ala",
        "hgvsWellDefined": "ENSP00000515501.1:p.Val440Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911971"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1674,
          "referenceAllele": "T",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000703850.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515503.1:p.Val508Ala",
        "hgvsWellDefined": "ENSP00000515503.1:p.Val508Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2295,
          "referenceAllele": "T",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000703866.1:c.1448T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515511.1:p.Val483Ala",
        "hgvsWellDefined": "ENSP00000515511.1:p.Val483Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1460,
          "referenceAllele": "T",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000526683.6:c.1448T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434359.1:p.Val483Ala",
        "hgvsWellDefined": "ENSP00000434359.1:p.Val483Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758977",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000526683.6:c.1448T>C"
          },
          "RefSeq": {
            "hgvs": "NM_078480.3:c.1448T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434359.1:p.Val483Ala"
          },
          "RefSeq": {
            "hgvs": "NP_510965.1:p.Val483Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1429,
          "referenceAllele": "T",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000313352.11:c.1268T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322016.7:p.Val423Ala",
        "hgvsWellDefined": "ENSP00000322016.7:p.Val423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256802"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1446,
          "referenceAllele": "T",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000349157.10:c.1397T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322036.7:p.Val466Ala",
        "hgvsWellDefined": "ENSP00000322036.7:p.Val466Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1467,
          "referenceAllele": "T",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000453551.6:c.1319T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402953.2:p.Val440Ala",
        "hgvsWellDefined": "ENSP00000402953.2:p.Val440Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1361,
          "referenceAllele": "T",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000456095.6:c.1361T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395417.2:p.Val454Ala",
        "hgvsWellDefined": "ENSP00000395417.2:p.Val454Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303334"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2004,
          "referenceAllele": "T",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000526683.5:c.1448T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434359.1:p.Val483Ala",
        "hgvsWellDefined": "ENSP00000434359.1:p.Val483Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1327,
          "referenceAllele": "T",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "ENST00000527197.5:c.1310T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431960.1:p.Val437Ala",
        "hgvsWellDefined": "ENSP00000431960.1:p.Val437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825813242",
      "coordinates": [
        {
          "allele": "C",
          "end": 1550,
          "referenceAllele": "T",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001136033.2:c.1319T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129505.1:p.Val440Ala",
        "hgvsWellDefined": "NP_001129505.1:p.Val440Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532439",
      "coordinates": [
        {
          "allele": "C",
          "end": 1477,
          "referenceAllele": "T",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271096.1:c.1394T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258025.1:p.Val465Ala",
        "hgvsWellDefined": "NP_001258025.1:p.Val465Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532547",
      "coordinates": [
        {
          "allele": "C",
          "end": 1393,
          "referenceAllele": "T",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271097.1:c.1310T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258026.1:p.Val437Ala",
        "hgvsWellDefined": "NP_001258026.1:p.Val437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020493"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532665",
      "coordinates": [
        {
          "allele": "C",
          "end": 1528,
          "referenceAllele": "T",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271098.1:c.1445T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258027.1:p.Val482Ala",
        "hgvsWellDefined": "NP_001258027.1:p.Val482Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532771",
      "coordinates": [
        {
          "allele": "C",
          "end": 1444,
          "referenceAllele": "T",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271099.1:c.1361T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258028.1:p.Val454Ala",
        "hgvsWellDefined": "NP_001258028.1:p.Val454Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020495"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532870",
      "coordinates": [
        {
          "allele": "C",
          "end": 1499,
          "referenceAllele": "T",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271100.1:c.1268T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258029.1:p.Val423Ala",
        "hgvsWellDefined": "NP_001258029.1:p.Val423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829756756",
      "coordinates": [
        {
          "allele": "C",
          "end": 1480,
          "referenceAllele": "T",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_014281.4:c.1397T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055096.2:p.Val466Ala",
        "hgvsWellDefined": "NP_055096.2:p.Val466Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913202258",
      "coordinates": [
        {
          "allele": "C",
          "end": 1531,
          "referenceAllele": "T",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_078480.2:c.1448T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_510965.1:p.Val483Ala",
        "hgvsWellDefined": "NP_510965.1:p.Val483Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1735,
          "referenceAllele": "T",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "XM_011516929.1:c.1559T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515231.1:p.Val520Ala",
        "hgvsWellDefined": "XP_011515231.1:p.Val520Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1586,
          "referenceAllele": "T",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "XM_011516930.1:c.1508T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515232.1:p.Val503Ala",
        "hgvsWellDefined": "XP_011515232.1:p.Val503Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828070307",
      "coordinates": [
        {
          "allele": "C",
          "end": 1702,
          "referenceAllele": "T",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001362895.1:c.1559T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349824.1:p.Val520Ala",
        "hgvsWellDefined": "NP_001349824.1:p.Val520Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043623",
      "coordinates": [
        {
          "allele": "C",
          "end": 1865,
          "referenceAllele": "T",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001362896.1:c.1559T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349825.1:p.Val520Ala",
        "hgvsWellDefined": "NP_001349825.1:p.Val520Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828070474",
      "coordinates": [
        {
          "allele": "C",
          "end": 1651,
          "referenceAllele": "T",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001362897.1:c.1508T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349826.1:p.Val503Ala",
        "hgvsWellDefined": "NP_001349826.1:p.Val503Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3063,
          "referenceAllele": "T",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "XM_017013234.1:c.1559T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868723.1:p.Val520Ala",
        "hgvsWellDefined": "XP_016868723.1:p.Val520Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1633,
          "referenceAllele": "T",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "XM_017013235.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868724.1:p.Val508Ala",
        "hgvsWellDefined": "XP_016868724.1:p.Val508Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3012,
          "referenceAllele": "T",
          "start": 3011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "XM_017013236.1:c.1508T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868725.1:p.Val503Ala",
        "hgvsWellDefined": "XP_016868725.1:p.Val503Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1558,
          "referenceAllele": "T",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "XM_017013239.1:c.1319T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868728.1:p.Val440Ala",
        "hgvsWellDefined": "XP_016868728.1:p.Val440Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566599"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1507,
          "referenceAllele": "T",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "XM_017013240.1:c.1268T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868729.1:p.Val423Ala",
        "hgvsWellDefined": "XP_016868729.1:p.Val423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566600"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825813242",
      "coordinates": [
        {
          "allele": "C",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001136033.3:c.1319T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129505.1:p.Val440Ala",
        "hgvsWellDefined": "NP_001129505.1:p.Val440Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532439",
      "coordinates": [
        {
          "allele": "C",
          "end": 1406,
          "referenceAllele": "T",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271096.2:c.1394T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258025.1:p.Val465Ala",
        "hgvsWellDefined": "NP_001258025.1:p.Val465Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532547",
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "T",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271097.2:c.1310T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258026.1:p.Val437Ala",
        "hgvsWellDefined": "NP_001258026.1:p.Val437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532665",
      "coordinates": [
        {
          "allele": "C",
          "end": 1457,
          "referenceAllele": "T",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271098.2:c.1445T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258027.1:p.Val482Ala",
        "hgvsWellDefined": "NP_001258027.1:p.Val482Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532771",
      "coordinates": [
        {
          "allele": "C",
          "end": 1373,
          "referenceAllele": "T",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271099.2:c.1361T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258028.1:p.Val454Ala",
        "hgvsWellDefined": "NP_001258028.1:p.Val454Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532870",
      "coordinates": [
        {
          "allele": "C",
          "end": 1431,
          "referenceAllele": "T",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271100.2:c.1268T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258029.1:p.Val423Ala",
        "hgvsWellDefined": "NP_001258029.1:p.Val423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828070307",
      "coordinates": [
        {
          "allele": "C",
          "end": 1634,
          "referenceAllele": "T",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001362895.2:c.1559T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349824.1:p.Val520Ala",
        "hgvsWellDefined": "NP_001349824.1:p.Val520Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043623",
      "coordinates": [
        {
          "allele": "C",
          "end": 1797,
          "referenceAllele": "T",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001362896.2:c.1559T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349825.1:p.Val520Ala",
        "hgvsWellDefined": "NP_001349825.1:p.Val520Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828070474",
      "coordinates": [
        {
          "allele": "C",
          "end": 1583,
          "referenceAllele": "T",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001362897.2:c.1508T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349826.1:p.Val503Ala",
        "hgvsWellDefined": "NP_001349826.1:p.Val503Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829756756",
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "T",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_014281.5:c.1397T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055096.2:p.Val466Ala",
        "hgvsWellDefined": "NP_055096.2:p.Val466Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913202258",
      "coordinates": [
        {
          "allele": "C",
          "end": 1460,
          "referenceAllele": "T",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_078480.3:c.1448T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_510965.1:p.Val483Ala",
        "hgvsWellDefined": "NP_510965.1:p.Val483Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699498",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000526683.6:c.1448T>C"
          },
          "RefSeq": {
            "hgvs": "NM_078480.3:c.1448T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434359.1:p.Val483Ala"
          },
          "RefSeq": {
            "hgvs": "NP_510965.1:p.Val483Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}