{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA224202",
  "communityStandardTitle": [
    "NC_000020.11:g.3889196C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=102421[alleleid]",
        "alleleId": 102421,
        "preferredName": "NM_153638.4(PANK2):c.96C>T (p.Thr32=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96527",
        "RCV": [
          "RCV000082680",
          "RCV002514447"
        ],
        "variationId": 96527
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-3869843-C-T",
        "id": "20-3869843-C-T",
        "variant": "20:3869843 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.3869843C>T?assembly=hg19",
        "id": "chr20:g.3869843C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.3889196C>T?assembly=hg38",
        "id": "chr20:g.3889196C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398124549",
        "rs": 398124549
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3869843-C-T?dataset=gnomad_r2_1",
        "id": "20-3869843-C-T",
        "variant": "20:3869843 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3889196-C-T?dataset=gnomad_r3",
        "id": "20-3889196-C-T",
        "variant": "20:3889196 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3889196-C-T?dataset=gnomad_r4",
        "id": "20-3889196-C-T",
        "variant": "20:3889196 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3889196,
          "referenceAllele": "C",
          "start": 3889195
        }
      ],
      "hgvs": [
        "NC_000020.11:g.3889196C>T",
        "CM000682.2:g.3889196C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3869843,
          "referenceAllele": "C",
          "start": 3869842
        }
      ],
      "hgvs": [
        "NC_000020.10:g.3869843C>T",
        "CM000682.1:g.3869843C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3817843,
          "referenceAllele": "C",
          "start": 3817842
        }
      ],
      "hgvs": [
        "NC_000020.9:g.3817843C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5358,
          "referenceAllele": "C",
          "start": 5357
        }
      ],
      "hgvs": [
        "NG_008131.3:g.5358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000877"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000316562.9:c.96C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313377.4:p.Thr32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000316562.8:c.96C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313377.4:p.Thr32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "C",
          "start": 83,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000495692.5:c.-538+180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476745.1:n.-538+180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66,
          "endIntronDirection": "+",
          "endIntronOffset": 292,
          "referenceAllele": "C",
          "start": 66,
          "startIntronDirection": "+",
          "startIntronOffset": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000497424.5:c.-246+292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417609.1:n.-246+292C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66,
          "endIntronDirection": "+",
          "endIntronOffset": 292,
          "referenceAllele": "C",
          "start": 66,
          "startIntronDirection": "+",
          "startIntronOffset": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.4:c.-246+292C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:n.-246+292C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331431",
      "coordinates": [
        {
          "allele": "T",
          "end": 102,
          "referenceAllele": "C",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.2:c.96C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Thr32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "C",
          "start": 72,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260836.3:c.-246+180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260893.3:n.-246+180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 157,
          "referenceAllele": "C",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529364.1:c.96C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527666.1:p.Thr32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 174,
          "referenceAllele": "C",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529365.1:c.96C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527667.1:p.Thr32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324191.1:c.-946C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311120.1:n.-946C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827244460",
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324192.1:c.96C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311121.1:p.Thr32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66,
          "endIntronDirection": "+",
          "endIntronOffset": 292,
          "referenceAllele": "C",
          "start": 66,
          "startIntronDirection": "+",
          "startIntronOffset": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.5:c.-246+292C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:n.-246+292C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331431",
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.3:c.96C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Thr32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NR_136715.1:n.263C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "C",
          "start": 68,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260836.4:c.-246+180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260893.3:n.-246+180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "C",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529364.3:c.96C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527666.1:p.Thr32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "C",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529365.2:c.96C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527667.1:p.Thr32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 95,
          "endIntronDirection": "+",
          "endIntronOffset": 180,
          "referenceAllele": "C",
          "start": 95,
          "startIntronDirection": "+",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028079.2:c.-538+180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883568.1:n.-538+180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 292,
          "referenceAllele": "C",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_024452002.1:c.-538+292C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307770.1:n.-538+292C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 257,
          "referenceAllele": "C",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XR_002958533.1:n.257C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 292,
          "referenceAllele": "C",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.6:c.-246+292C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:n.-246+292C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331431",
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "referenceAllele": "C",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.4:c.96C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Thr32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729485"
    }
  ],
  "type": "nucleotide"
}