{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2346796940",
  "communityStandardTitle": [
    "NM_001386393.1(PANK2):c.721T= (p.Ser241=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852964",
        "rs": 137852964
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3910646,
          "referenceAllele": "T",
          "start": 3910645
        }
      ],
      "hgvs": [
        "NC_000020.11:g.3910646T=",
        "CM000682.2:g.3910646T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3891293,
          "referenceAllele": "T",
          "start": 3891292
        }
      ],
      "hgvs": [
        "NC_000020.10:g.3891293T=",
        "CM000682.1:g.3891293T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3839293,
          "referenceAllele": "T",
          "start": 3839292
        }
      ],
      "hgvs": [
        "NC_000020.9:g.3839293T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26808,
          "referenceAllele": "T",
          "start": 26807
        }
      ],
      "hgvs": [
        "NG_008131.3:g.26808T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000877"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "T",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.7:c.721T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.2:p.Ser241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826386",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610179.7:c.721T="
          },
          "RefSeq": {
            "hgvs": "NM_001386393.1:c.721T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477429.2:p.Ser241="
          },
          "RefSeq": {
            "hgvs": "NP_001373322.1:p.Ser241="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "referenceAllele": "T",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000316562.9:c.1051T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313377.4:p.Ser351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "T",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000336066.8:c.*62T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477229.2:n.*62T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "T",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.6:c.721T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.2:p.Ser241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000643504.2:c.*351T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495157.2:n.*351T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "T",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000646394.1:c.548T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "T",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000316562.8:c.1051T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313377.4:p.Ser351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "T",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000336066.7:c.*62T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477229.1:n.*62T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 286,
          "referenceAllele": "T",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000464452.1:n.286T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 452,
          "referenceAllele": "T",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000471830.1:n.452T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "referenceAllele": "T",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000495692.5:c.-258T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476745.1:n.-258T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000497424.5:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417609.1:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "T",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.5:c.682T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.1:p.Ser228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "T",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000621507.1:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481523.1:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047392",
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.4:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331753",
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "T",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.2:c.1051T="
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Ser351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331942",
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "T",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.2:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "T",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260835.2:c.436T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260892.1:p.Ser146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "T",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260836.3:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260893.3:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "T",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_006723631.1:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723694.1:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1112,
          "referenceAllele": "T",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529364.1:c.1051T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527666.1:p.Ser351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827244269",
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "T",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324191.1:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001311120.1:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "referenceAllele": "T",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324193.1:c.-258T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001311122.1:n.-258T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047392",
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.5:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331753",
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "T",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.3:c.1051T="
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Ser351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331942",
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "T",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.3:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1075,
          "referenceAllele": "T",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NR_136715.1:n.1075T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "referenceAllele": "T",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260835.3:c.436T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260892.1:p.Ser146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260836.4:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260893.3:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "referenceAllele": "T",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529364.3:c.1051T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527666.1:p.Ser351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "T",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028077.2:c.-258T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883566.1:n.-258T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "T",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028078.2:c.-258T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883567.1:n.-258T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "T",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028079.2:c.-258T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883568.1:n.-258T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_024452002.1:c.-258T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307770.1:n.-258T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1839,
          "referenceAllele": "T",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XR_002958533.1:n.1839T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827244269",
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "T",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324191.2:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001311120.1:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "referenceAllele": "T",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324193.2:c.-258T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001311122.1:n.-258T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047392",
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "T",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.6:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "T",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NR_136715.2:n.622T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829112011",
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "T",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001386393.1:c.721T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373322.1:p.Ser241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724500",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610179.7:c.721T="
          },
          "RefSeq": {
            "hgvs": "NM_001386393.1:c.721T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477429.2:p.Ser241="
          },
          "RefSeq": {
            "hgvs": "NP_001373322.1:p.Ser241="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331753",
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "referenceAllele": "T",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.4:c.1051T="
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Ser351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331942",
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "T",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.4:c.178T="
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Ser60="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729486"
    }
  ],
  "type": "nucleotide"
}