{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7912056",
  "communityStandardTitle": [
    "NM_002582.4(PARN):c.1330C>T (p.Arg444Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5748936",
        "active": true,
        "id": "COSM5748936"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5748937",
        "active": true,
        "id": "COSM5748937"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409445[alleleid]",
        "alleleId": 409445,
        "preferredName": "NM_002582.4(PARN):c.1330C>T (p.Arg444Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423824",
        "RCV": [
          "RCV000484657",
          "RCV001308486",
          "RCV002509408"
        ],
        "variationId": 423824
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-14647997-G-A",
        "id": "16-14647997-G-A",
        "variant": "16:14647997 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14647997G>A?assembly=hg19",
        "id": "chr16:g.14647997G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14554140G>A?assembly=hg38",
        "id": "chr16:g.14554140G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765981944",
        "rs": 765981944
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14647997-G-A?dataset=gnomad_r2_1",
        "id": "16-14647997-G-A",
        "variant": "16:14647997 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14554140-G-A?dataset=gnomad_r3",
        "id": "16-14554140-G-A",
        "variant": "16:14554140 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14554140-G-A?dataset=gnomad_r4",
        "id": "16-14554140-G-A",
        "variant": "16:14554140 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 14554140,
          "referenceAllele": "G",
          "start": 14554139
        }
      ],
      "hgvs": [
        "NC_000016.10:g.14554140G>A",
        "CM000678.2:g.14554140G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 14647997,
          "referenceAllele": "G",
          "start": 14647996
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14647997G>A",
        "CM000678.1:g.14647997G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 14555498,
          "referenceAllele": "G",
          "start": 14555497
        }
      ],
      "hgvs": [
        "NC_000016.8:g.14555498G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81132,
          "referenceAllele": "C",
          "start": 81131
        }
      ],
      "hgvs": [
        "NG_042871.1:g.81132C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006056"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1781,
          "referenceAllele": "C",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000697471.1:n.1781C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1371,
          "referenceAllele": "C",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000697472.1:n.1371C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2932,
          "referenceAllele": "C",
          "start": 2931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000697473.1:n.2932C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000697474.1:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513329.1:p.Arg444Cys",
        "hgvsWellDefined": "ENSP00000513329.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
          "referenceAllele": "C",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000697475.1:n.1485C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000697476.1:n.1463C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000437198.7:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387911.2:p.Arg444Cys",
        "hgvsWellDefined": "ENSP00000387911.2:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437198.7:c.1330C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002582.4:c.1330C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387911.2:p.Arg444Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002573.1:p.Arg444Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000563641.6:c.*1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458103.1:n.*1094C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1440,
          "referenceAllele": "C",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000564113.6:n.1440C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "C",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000650960.1:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499110.1:p.Arg444Cys",
        "hgvsWellDefined": "ENSP00000499110.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1488,
          "referenceAllele": "C",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000650990.1:c.1405C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498741.1:p.Arg469Cys",
        "hgvsWellDefined": "ENSP00000498741.1:p.Arg469Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651027.1:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498640.1:p.Arg444Cys",
        "hgvsWellDefined": "ENSP00000498640.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651049.1:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498644.1:p.Arg444Cys",
        "hgvsWellDefined": "ENSP00000498644.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "endIntronDirection": "+",
          "endIntronOffset": 1514,
          "referenceAllele": "C",
          "start": 1520,
          "startIntronDirection": "+",
          "startIntronOffset": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651300.1:c.*1212+1514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498294.1:n.*1212+1514C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651348.1:c.*401C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498315.1:n.*401C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651634.1:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499078.1:p.Arg444Cys",
        "hgvsWellDefined": "ENSP00000499078.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2518,
          "referenceAllele": "C",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651760.1:c.2518C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1390,
          "referenceAllele": "C",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651865.1:c.1255C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498567.1:p.Arg419Cys",
        "hgvsWellDefined": "ENSP00000498567.1:p.Arg419Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1277,
          "referenceAllele": "C",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651913.1:c.1277C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000652051.1:c.*106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498898.1:n.*106C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "C",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000652066.1:c.1110C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1487,
          "referenceAllele": "C",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000652411.1:n.1487C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000652501.1:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498261.1:p.Arg444Cys",
        "hgvsWellDefined": "ENSP00000498261.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000652541.1:c.*1162C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499206.1:n.*1162C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "endIntronDirection": "+",
          "endIntronOffset": 1514,
          "referenceAllele": "C",
          "start": 1317,
          "startIntronDirection": "+",
          "startIntronOffset": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000652727.1:c.1231+1514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498650.1:n.1231+1514C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000341484.11:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345456.7:p.Arg383Cys",
        "hgvsWellDefined": "ENSP00000345456.7:p.Arg383Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1326,
          "referenceAllele": "C",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000420015.6:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410525.2:p.Arg398Cys",
        "hgvsWellDefined": "ENSP00000410525.2:p.Arg398Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000437198.6:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387911.2:p.Arg444Cys",
        "hgvsWellDefined": "ENSP00000387911.2:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000539279.5:c.805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444381.1:p.Arg269Cys",
        "hgvsWellDefined": "ENSP00000444381.1:p.Arg269Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "referenceAllele": "C",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000564904.5:n.128C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825781162",
      "coordinates": [
        {
          "allele": "T",
          "end": 1393,
          "referenceAllele": "C",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_001134477.2:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127949.1:p.Arg383Cys",
        "hgvsWellDefined": "NP_001127949.1:p.Arg383Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826313975",
      "coordinates": [
        {
          "allele": "T",
          "end": 1338,
          "referenceAllele": "C",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_001242992.1:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229921.1:p.Arg398Cys",
        "hgvsWellDefined": "NP_001229921.1:p.Arg398Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018387"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645295019",
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "referenceAllele": "C",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_002582.3:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002573.1:p.Arg444Cys",
        "hgvsWellDefined": "NP_002573.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XM_011522510.1:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520812.1:p.Arg444Cys",
        "hgvsWellDefined": "XP_011520812.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XM_011522511.1:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520813.1:p.Arg444Cys",
        "hgvsWellDefined": "XP_011520813.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1468,
          "endIntronDirection": "+",
          "endIntronOffset": 1514,
          "referenceAllele": "C",
          "start": 1468,
          "startIntronDirection": "+",
          "startIntronOffset": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XM_011522512.1:c.1318+1514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520814.1:n.1318+1514C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XM_011522513.1:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520815.1:p.Arg383Cys",
        "hgvsWellDefined": "XP_011520815.1:p.Arg383Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089664"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645295019",
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_002582.4:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002573.1:p.Arg444Cys",
        "hgvsWellDefined": "NP_002573.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437198.7:c.1330C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002582.4:c.1330C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387911.2:p.Arg444Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002573.1:p.Arg444Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1491,
          "referenceAllele": "C",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XM_011522510.3:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520812.1:p.Arg444Cys",
        "hgvsWellDefined": "XP_011520812.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1481,
          "referenceAllele": "C",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XM_011522511.2:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520813.1:p.Arg444Cys",
        "hgvsWellDefined": "XP_011520813.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1392,
          "referenceAllele": "C",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XM_011522513.2:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520815.1:p.Arg383Cys",
        "hgvsWellDefined": "XP_011520815.1:p.Arg383Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XM_017023258.2:c.1252C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878747.1:p.Arg418Cys",
        "hgvsWellDefined": "XP_016878747.1:p.Arg418Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XM_017023259.2:c.493C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878748.1:p.Arg165Cys",
        "hgvsWellDefined": "XP_016878748.1:p.Arg165Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XM_017023260.1:c.493C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878749.1:p.Arg165Cys",
        "hgvsWellDefined": "XP_016878749.1:p.Arg165Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2161,
          "referenceAllele": "C",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XM_024450292.1:c.493C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306060.1:p.Arg165Cys",
        "hgvsWellDefined": "XP_024306060.1:p.Arg165Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1447,
          "referenceAllele": "C",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "XR_001751906.2:n.1447C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825781162",
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_001134477.3:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127949.1:p.Arg383Cys",
        "hgvsWellDefined": "NP_001127949.1:p.Arg383Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677237"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826313975",
      "coordinates": [
        {
          "allele": "T",
          "end": 1327,
          "referenceAllele": "C",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_001242992.2:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229921.1:p.Arg398Cys",
        "hgvsWellDefined": "NP_001229921.1:p.Arg398Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680167"
    }
  ],
  "type": "nucleotide"
}