{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA408117670",
  "communityStandardTitle": [
    "NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=575098[alleleid]",
        "alleleId": 575098,
        "preferredName": "NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/573713",
        "RCV": [
          "RCV000695445",
          "RCV003442036"
        ],
        "variationId": 573713
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.3893209A>G?assembly=hg19",
        "id": "chr20:g.3893209A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.3912562A>G?assembly=hg38",
        "id": "chr20:g.3912562A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1568575238",
        "rs": 1568575238
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3912562-A-G?dataset=gnomad_r4",
        "id": "20-3912562-A-G",
        "variant": "20:3912562 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 3912562,
          "referenceAllele": "A",
          "start": 3912561
        }
      ],
      "hgvs": [
        "NC_000020.11:g.3912562A>G",
        "CM000682.2:g.3912562A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 3893209,
          "referenceAllele": "A",
          "start": 3893208
        }
      ],
      "hgvs": [
        "NC_000020.10:g.3893209A>G",
        "CM000682.1:g.3893209A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 3841209,
          "referenceAllele": "A",
          "start": 3841208
        }
      ],
      "hgvs": [
        "NC_000020.9:g.3841209A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28724,
          "referenceAllele": "A",
          "start": 28723
        }
      ],
      "hgvs": [
        "NG_008131.3:g.28724A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000877"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "A",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.7:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.2:p.Asp337Gly",
        "hgvsWellDefined": "ENSP00000477429.2:p.Asp337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826386",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610179.7:c.1010A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001386393.1:c.1010A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477429.2:p.Asp337Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001373322.1:p.Asp337Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1518,
          "referenceAllele": "A",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000316562.9:c.1340A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313377.4:p.Asp447Gly",
        "hgvsWellDefined": "ENSP00000313377.4:p.Asp447Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 909,
          "referenceAllele": "A",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000336066.8:c.*351A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477229.2:n.*351A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "A",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.6:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.2:p.Asp337Gly",
        "hgvsWellDefined": "ENSP00000477429.2:p.Asp337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1149,
          "referenceAllele": "A",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000643504.2:c.*640A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495157.2:n.*640A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "referenceAllele": "A",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000646394.1:c.837A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1346,
          "referenceAllele": "A",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000316562.8:c.1340A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313377.4:p.Asp447Gly",
        "hgvsWellDefined": "ENSP00000313377.4:p.Asp447Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 909,
          "referenceAllele": "A",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000336066.7:c.*351A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477229.1:n.*351A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000464452.1:n.575A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000495692.5:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476745.1:p.Asp11Gly",
        "hgvsWellDefined": "ENSP00000476745.1:p.Asp11Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000497424.5:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417609.1:p.Asp156Gly",
        "hgvsWellDefined": "ENSP00000417609.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1026,
          "referenceAllele": "A",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.5:c.971A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.1:p.Asp324Gly",
        "hgvsWellDefined": "ENSP00000477429.1:p.Asp324Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "A",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000621507.1:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481523.1:p.Asp156Gly",
        "hgvsWellDefined": "ENSP00000481523.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047492",
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.4:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Asp156Gly",
        "hgvsWellDefined": "NP_079236.3:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891860554",
      "coordinates": [
        {
          "allele": "G",
          "end": 1346,
          "referenceAllele": "A",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.2:c.1340A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Asp447Gly",
        "hgvsWellDefined": "NP_705902.2:p.Asp447Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830332019",
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "A",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.2:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_705904.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "A",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260835.2:c.725A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260892.1:p.Asp242Gly",
        "hgvsWellDefined": "XP_005260892.1:p.Asp242Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260836.3:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260893.3:p.Asp156Gly",
        "hgvsWellDefined": "XP_005260893.3:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 880,
          "referenceAllele": "A",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_006723631.1:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723694.1:p.Asp156Gly",
        "hgvsWellDefined": "XP_006723694.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1296,
          "endIntronDirection": "+",
          "endIntronOffset": 1732,
          "referenceAllele": "A",
          "start": 1296,
          "startIntronDirection": "+",
          "startIntronOffset": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529364.1:c.1235+1732A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527666.1:n.1235+1732A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827244344",
      "coordinates": [
        {
          "allele": "G",
          "end": 1675,
          "referenceAllele": "A",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324191.1:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311120.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_001311120.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827244722",
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "A",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324193.1:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311122.1:p.Asp11Gly",
        "hgvsWellDefined": "NP_001311122.1:p.Asp11Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047492",
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.5:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Asp156Gly",
        "hgvsWellDefined": "NP_079236.3:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891860554",
      "coordinates": [
        {
          "allele": "G",
          "end": 1507,
          "referenceAllele": "A",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.3:c.1340A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Asp447Gly",
        "hgvsWellDefined": "NP_705902.2:p.Asp447Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830332019",
      "coordinates": [
        {
          "allele": "G",
          "end": 843,
          "referenceAllele": "A",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.3:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_705904.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1364,
          "referenceAllele": "A",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NR_136715.1:n.1364A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 960,
          "referenceAllele": "A",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260835.3:c.725A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260892.1:p.Asp242Gly",
        "hgvsWellDefined": "XP_005260892.1:p.Asp242Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 780,
          "referenceAllele": "A",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260836.4:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260893.3:p.Asp156Gly",
        "hgvsWellDefined": "XP_005260893.3:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1258,
          "endIntronDirection": "+",
          "endIntronOffset": 1732,
          "referenceAllele": "A",
          "start": 1258,
          "startIntronDirection": "+",
          "startIntronOffset": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529364.3:c.1235+1732A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527666.1:n.1235+1732A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028077.2:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883566.1:p.Asp11Gly",
        "hgvsWellDefined": "XP_016883566.1:p.Asp11Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "referenceAllele": "A",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028078.2:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883567.1:p.Asp11Gly",
        "hgvsWellDefined": "XP_016883567.1:p.Asp11Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "referenceAllele": "A",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028079.2:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883568.1:p.Asp11Gly",
        "hgvsWellDefined": "XP_016883568.1:p.Asp11Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "A",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_024452002.1:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307770.1:p.Asp11Gly",
        "hgvsWellDefined": "XP_024307770.1:p.Asp11Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2128,
          "referenceAllele": "A",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XR_002958533.1:n.2128A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827244344",
      "coordinates": [
        {
          "allele": "G",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324191.2:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311120.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_001311120.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827244722",
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "A",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324193.2:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311122.1:p.Asp11Gly",
        "hgvsWellDefined": "NP_001311122.1:p.Asp11Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047492",
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "A",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.6:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Asp156Gly",
        "hgvsWellDefined": "NP_079236.3:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NR_136715.2:n.911A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829112088",
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "A",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001386393.1:c.1010A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373322.1:p.Asp337Gly",
        "hgvsWellDefined": "NP_001373322.1:p.Asp337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724500",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610179.7:c.1010A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001386393.1:c.1010A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477429.2:p.Asp337Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001373322.1:p.Asp337Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA891860554",
      "coordinates": [
        {
          "allele": "G",
          "end": 1518,
          "referenceAllele": "A",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.4:c.1340A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Asp447Gly",
        "hgvsWellDefined": "NP_705902.2:p.Asp447Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830332019",
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "A",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.4:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_705904.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729486"
    }
  ],
  "type": "nucleotide"
}