{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9750929",
  "communityStandardTitle": [
    "NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=648668[alleleid]",
        "alleleId": 648668,
        "preferredName": "NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/642654",
        "RCV": [
          "RCV000796153",
          "RCV003155314"
        ],
        "variationId": 642654
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-3899366-A-G",
        "id": "20-3899366-A-G",
        "variant": "20:3899366 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.3899366A>G?assembly=hg19",
        "id": "chr20:g.3899366A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.3918719A>G?assembly=hg38",
        "id": "chr20:g.3918719A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761156912",
        "rs": 761156912
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3899366-A-G?dataset=gnomad_r2_1",
        "id": "20-3899366-A-G",
        "variant": "20:3899366 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3918719-A-G?dataset=gnomad_r3",
        "id": "20-3918719-A-G",
        "variant": "20:3918719 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3918719-A-G?dataset=gnomad_r4",
        "id": "20-3918719-A-G",
        "variant": "20:3918719 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 3918719,
          "referenceAllele": "A",
          "start": 3918718
        }
      ],
      "hgvs": [
        "NC_000020.11:g.3918719A>G",
        "CM000682.2:g.3918719A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 3899366,
          "referenceAllele": "A",
          "start": 3899365
        }
      ],
      "hgvs": [
        "NC_000020.10:g.3899366A>G",
        "CM000682.1:g.3899366A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 3847366,
          "referenceAllele": "A",
          "start": 3847365
        }
      ],
      "hgvs": [
        "NC_000020.9:g.3847366A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34881,
          "referenceAllele": "A",
          "start": 34880
        }
      ],
      "hgvs": [
        "NG_008131.3:g.34881A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000877"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.7:c.1255A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.2:p.Ile419Val",
        "hgvsWellDefined": "ENSP00000477429.2:p.Ile419Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826386",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610179.7:c.1255A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001386393.1:c.1255A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477429.2:p.Ile419Val"
          },
          "RefSeq": {
            "hgvs": "NP_001373322.1:p.Ile419Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "A",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000316562.9:c.1585A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313377.4:p.Ile529Val",
        "hgvsWellDefined": "ENSP00000313377.4:p.Ile529Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "A",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000336066.8:c.*596A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477229.2:n.*596A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.6:c.1255A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.2:p.Ile419Val",
        "hgvsWellDefined": "ENSP00000477429.2:p.Ile419Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1394,
          "referenceAllele": "A",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000643504.2:c.*885A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495157.2:n.*885A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1082,
          "referenceAllele": "A",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000646394.1:c.1082A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "referenceAllele": "A",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000316562.8:c.1585A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313377.4:p.Ile529Val",
        "hgvsWellDefined": "ENSP00000313377.4:p.Ile529Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "A",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000336066.7:c.*596A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477229.1:n.*596A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 897,
          "referenceAllele": "A",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000495692.5:c.277A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476745.1:p.Ile93Val",
        "hgvsWellDefined": "ENSP00000476745.1:p.Ile93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000497424.5:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417609.1:p.Ile238Val",
        "hgvsWellDefined": "ENSP00000417609.1:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1271,
          "referenceAllele": "A",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.5:c.1216A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.1:p.Ile406Val",
        "hgvsWellDefined": "ENSP00000477429.1:p.Ile406Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "A",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000621507.1:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481523.1:p.Ile238Val",
        "hgvsWellDefined": "ENSP00000481523.1:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047568",
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.4:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Ile238Val",
        "hgvsWellDefined": "NP_079236.3:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331870",
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "referenceAllele": "A",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.2:c.1585A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Ile529Val",
        "hgvsWellDefined": "NP_705902.2:p.Ile529Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830332099",
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "A",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.2:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Ile238Val",
        "hgvsWellDefined": "NP_705904.1:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 985,
          "referenceAllele": "A",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260835.2:c.970A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260892.1:p.Ile324Val",
        "hgvsWellDefined": "XP_005260892.1:p.Ile324Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "A",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260836.3:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260893.3:p.Ile238Val",
        "hgvsWellDefined": "XP_005260893.3:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1125,
          "referenceAllele": "A",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_006723631.1:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723694.1:p.Ile238Val",
        "hgvsWellDefined": "XP_006723694.1:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1469,
          "referenceAllele": "A",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529364.1:c.1408A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527666.1:p.Ile470Val",
        "hgvsWellDefined": "XP_011527666.1:p.Ile470Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827244405",
      "coordinates": [
        {
          "allele": "G",
          "end": 1920,
          "referenceAllele": "A",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324191.1:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311120.1:p.Ile238Val",
        "hgvsWellDefined": "NP_001311120.1:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027048",
      "coordinates": [
        {
          "allele": "G",
          "end": 945,
          "referenceAllele": "A",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324193.1:c.277A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311122.1:p.Ile93Val",
        "hgvsWellDefined": "NP_001311122.1:p.Ile93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047568",
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.5:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Ile238Val",
        "hgvsWellDefined": "NP_079236.3:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331870",
      "coordinates": [
        {
          "allele": "G",
          "end": 1752,
          "referenceAllele": "A",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.3:c.1585A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Ile529Val",
        "hgvsWellDefined": "NP_705902.2:p.Ile529Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830332099",
      "coordinates": [
        {
          "allele": "G",
          "end": 1088,
          "referenceAllele": "A",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.3:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Ile238Val",
        "hgvsWellDefined": "NP_705904.1:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1609,
          "referenceAllele": "A",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NR_136715.1:n.1609A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1205,
          "referenceAllele": "A",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260835.3:c.970A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260892.1:p.Ile324Val",
        "hgvsWellDefined": "XP_005260892.1:p.Ile324Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "A",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260836.4:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260893.3:p.Ile238Val",
        "hgvsWellDefined": "XP_005260893.3:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1431,
          "referenceAllele": "A",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529364.3:c.1408A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527666.1:p.Ile470Val",
        "hgvsWellDefined": "XP_011527666.1:p.Ile470Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "A",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028077.2:c.277A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883566.1:p.Ile93Val",
        "hgvsWellDefined": "XP_016883566.1:p.Ile93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 879,
          "referenceAllele": "A",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028078.2:c.277A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883567.1:p.Ile93Val",
        "hgvsWellDefined": "XP_016883567.1:p.Ile93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 909,
          "referenceAllele": "A",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028079.2:c.277A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883568.1:p.Ile93Val",
        "hgvsWellDefined": "XP_016883568.1:p.Ile93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "A",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_024452002.1:c.277A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307770.1:p.Ile93Val",
        "hgvsWellDefined": "XP_024307770.1:p.Ile93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2373,
          "referenceAllele": "A",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XR_002958533.1:n.2373A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827244405",
      "coordinates": [
        {
          "allele": "G",
          "end": 1467,
          "referenceAllele": "A",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324191.2:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311120.1:p.Ile238Val",
        "hgvsWellDefined": "NP_001311120.1:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027048",
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324193.2:c.277A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311122.1:p.Ile93Val",
        "hgvsWellDefined": "NP_001311122.1:p.Ile93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047568",
      "coordinates": [
        {
          "allele": "G",
          "end": 1081,
          "referenceAllele": "A",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.6:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Ile238Val",
        "hgvsWellDefined": "NP_079236.3:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1156,
          "referenceAllele": "A",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NR_136715.2:n.1156A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829112149",
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001386393.1:c.1255A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373322.1:p.Ile419Val",
        "hgvsWellDefined": "NP_001373322.1:p.Ile419Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724500",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610179.7:c.1255A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001386393.1:c.1255A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477429.2:p.Ile419Val"
          },
          "RefSeq": {
            "hgvs": "NP_001373322.1:p.Ile419Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830331870",
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "A",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.4:c.1585A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Ile529Val",
        "hgvsWellDefined": "NP_705902.2:p.Ile529Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830332099",
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "A",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.4:c.712A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Ile238Val",
        "hgvsWellDefined": "NP_705904.1:p.Ile238Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729486"
    }
  ],
  "type": "nucleotide"
}