{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9750877", "communityStandardTitle": [ "NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2905514[alleleid]", "alleleId": 2905514, "preferredName": "NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2736944", "RCV": [ "RCV003502047" ], "variationId": 2736944 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-3897663-T-C", "id": "20-3897663-T-C", "variant": "20:3897663 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3897663T>C?assembly=hg19", "id": "chr20:g.3897663T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3917016T>C?assembly=hg38", "id": "chr20:g.3917016T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/775459398", "rs": 775459398 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3897663-T-C?dataset=gnomad_r2_1", "id": "20-3897663-T-C", "variant": "20:3897663 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3917016-T-C?dataset=gnomad_r3", "id": "20-3917016-T-C", "variant": "20:3917016 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3917016-T-C?dataset=gnomad_r4", "id": "20-3917016-T-C", "variant": "20:3917016 T / C" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 3917016, "referenceAllele": "T", "start": 3917015 } ], "hgvs": [ "NC_000020.11:g.3917016T>C", "CM000682.2:g.3917016T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 3897663, "referenceAllele": "T", "start": 3897662 } ], "hgvs": [ "NC_000020.10:g.3897663T>C", "CM000682.1:g.3897663T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 3845663, "referenceAllele": "T", "start": 3845662 } ], "hgvs": [ "NC_000020.9:g.3845663T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "C", "end": 33178, "referenceAllele": "T", "start": 33177 } ], "hgvs": [ "NG_008131.3:g.33178T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000877" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1216, "referenceAllele": "T", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.7:c.1172T>C" ], "proteinEffect": { "hgvs": "ENSP00000477429.2:p.Ile391Thr", "hgvsWellDefined": "ENSP00000477429.2:p.Ile391Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS826386", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000610179.7:c.1172T>C" }, "RefSeq": { "hgvs": "NM_001386393.1:c.1172T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477429.2:p.Ile391Thr" }, "RefSeq": { "hgvs": "NP_001373322.1:p.Ile391Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 1680, "referenceAllele": "T", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.9:c.1502T>C" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Ile501Thr", "hgvsWellDefined": "ENSP00000313377.4:p.Ile501Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS746071" }, { "coordinates": [ { "allele": "C", "end": 1071, "referenceAllele": "T", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.8:c.*513T>C" ], "proteinEffect": { "hgvs": "ENSP00000477229.2:n.*513T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS747545" }, { "coordinates": [ { "allele": "C", "end": 1216, "referenceAllele": "T", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.6:c.1172T>C" ], "proteinEffect": { "hgvs": "ENSP00000477429.2:p.Ile391Thr", "hgvsWellDefined": "ENSP00000477429.2:p.Ile391Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS761766" }, { "coordinates": [ { "allele": "C", "end": 1311, "referenceAllele": "T", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000643504.2:c.*802T>C" ], "proteinEffect": { "hgvs": "ENSP00000495157.2:n.*802T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS767317" }, { "coordinates": [ { "allele": "C", "end": 999, "referenceAllele": "T", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000646394.1:c.999T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS768849" }, { "coordinates": [ { "allele": "C", "end": 1508, "referenceAllele": "T", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.8:c.1502T>C" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Ile501Thr", "hgvsWellDefined": "ENSP00000313377.4:p.Ile501Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS257247" }, { "coordinates": [ { "allele": "C", "end": 1071, "referenceAllele": "T", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.7:c.*513T>C" ], "proteinEffect": { "hgvs": "ENSP00000477229.1:n.*513T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS260236" }, { "coordinates": [ { "allele": "C", "end": 737, "referenceAllele": "T", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000464452.1:n.737T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS308278" }, { "coordinates": [ { "allele": "C", "end": 814, "referenceAllele": "T", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000495692.5:c.194T>C" ], "proteinEffect": { "hgvs": "ENSP00000476745.1:p.Ile65Thr", "hgvsWellDefined": "ENSP00000476745.1:p.Ile65Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS332340" }, { "coordinates": [ { "allele": "C", "end": 940, "referenceAllele": "T", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000497424.5:c.629T>C" ], "proteinEffect": { "hgvs": "ENSP00000417609.1:p.Ile210Thr", "hgvsWellDefined": "ENSP00000417609.1:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS333665" }, { "coordinates": [ { "allele": "C", "end": 1188, "referenceAllele": "T", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.5:c.1133T>C" ], "proteinEffect": { "hgvs": "ENSP00000477429.1:p.Ile378Thr", "hgvsWellDefined": "ENSP00000477429.1:p.Ile378Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS400339" }, { "coordinates": [ { "allele": "C", "end": 991, "referenceAllele": "T", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000621507.1:c.629T>C" ], "proteinEffect": { "hgvs": "ENSP00000481523.1:p.Ile210Thr", "hgvsWellDefined": "ENSP00000481523.1:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS405305" }, { "@id": "http://reg.genome.network/allele/PA2830047549", "coordinates": [ { "allele": "C", "end": 940, "referenceAllele": "T", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.4:c.629T>C" ], "proteinEffect": { "hgvs": "NP_079236.3:p.Ile210Thr", "hgvsWellDefined": "NP_079236.3:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS038143" }, { "@id": "http://reg.genome.network/allele/PA102327", "coordinates": [ { "allele": "C", "end": 1508, "referenceAllele": "T", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.2:c.1502T>C" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Ile501Thr", "hgvsWellDefined": "NP_705902.2:p.Ile501Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS042447" }, { "@id": "http://reg.genome.network/allele/PA2830332081", "coordinates": [ { "allele": "C", "end": 991, "referenceAllele": "T", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153640.2:c.629T>C" ], "proteinEffect": { "hgvs": "NP_705904.1:p.Ile210Thr", "hgvsWellDefined": "NP_705904.1:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS042448" }, { "coordinates": [ { "allele": "C", "end": 902, "referenceAllele": "T", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260835.2:c.887T>C" ], "proteinEffect": { "hgvs": "XP_005260892.1:p.Ile296Thr", "hgvsWellDefined": "XP_005260892.1:p.Ile296Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS062944" }, { "coordinates": [ { "allele": "C", "end": 946, "referenceAllele": "T", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260836.3:c.629T>C" ], "proteinEffect": { "hgvs": "XP_005260893.3:p.Ile210Thr", "hgvsWellDefined": "XP_005260893.3:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS062945" }, { "coordinates": [ { "allele": "C", "end": 1042, "referenceAllele": "T", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_006723631.1:c.629T>C" ], "proteinEffect": { "hgvs": "XP_006723694.1:p.Ile210Thr", "hgvsWellDefined": "XP_006723694.1:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS075135" }, { "coordinates": [ { "allele": "C", "end": 1386, "referenceAllele": "T", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529364.1:c.1325T>C" ], "proteinEffect": { "hgvs": "XP_011527666.1:p.Ile442Thr", "hgvsWellDefined": "XP_011527666.1:p.Ile442Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS096433" }, { "@id": "http://reg.genome.network/allele/PA2827244390", "coordinates": [ { "allele": "C", "end": 1837, "referenceAllele": "T", "start": 1836 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001324191.1:c.629T>C" ], "proteinEffect": { "hgvs": "NP_001311120.1:p.Ile210Thr", "hgvsWellDefined": "NP_001311120.1:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS515803" }, { "@id": "http://reg.genome.network/allele/PA2741861427", "coordinates": [ { "allele": "C", "end": 862, "referenceAllele": "T", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001324193.1:c.194T>C" ], "proteinEffect": { "hgvs": "NP_001311122.1:p.Ile65Thr", "hgvsWellDefined": "NP_001311122.1:p.Ile65Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS515805" }, { "@id": "http://reg.genome.network/allele/PA2830047549", "coordinates": [ { "allele": "C", "end": 940, "referenceAllele": "T", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.5:c.629T>C" ], "proteinEffect": { "hgvs": "NP_079236.3:p.Ile210Thr", "hgvsWellDefined": "NP_079236.3:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS526199" }, { "@id": "http://reg.genome.network/allele/PA102327", "coordinates": [ { "allele": "C", "end": 1669, "referenceAllele": "T", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.3:c.1502T>C" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Ile501Thr", "hgvsWellDefined": "NP_705902.2:p.Ile501Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS526712" }, { "@id": "http://reg.genome.network/allele/PA2830332081", "coordinates": [ { "allele": "C", "end": 1005, "referenceAllele": "T", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153640.3:c.629T>C" ], "proteinEffect": { "hgvs": "NP_705904.1:p.Ile210Thr", "hgvsWellDefined": "NP_705904.1:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS526713" }, { "coordinates": [ { "allele": "C", "end": 1526, "referenceAllele": "T", "start": 1525 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NR_136715.1:n.1526T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS528990" }, { "coordinates": [ { "allele": "C", "end": 1122, "referenceAllele": "T", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260835.3:c.887T>C" ], "proteinEffect": { "hgvs": "XP_005260892.1:p.Ile296Thr", "hgvsWellDefined": "XP_005260892.1:p.Ile296Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS535249" }, { "coordinates": [ { "allele": "C", "end": 942, "referenceAllele": "T", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260836.4:c.629T>C" ], "proteinEffect": { "hgvs": "XP_005260893.3:p.Ile210Thr", "hgvsWellDefined": "XP_005260893.3:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS535250" }, { "coordinates": [ { "allele": "C", "end": 1348, "referenceAllele": "T", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529364.3:c.1325T>C" ], "proteinEffect": { "hgvs": "XP_011527666.1:p.Ile442Thr", "hgvsWellDefined": "XP_011527666.1:p.Ile442Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS549476" }, { "coordinates": [ { "allele": "C", "end": 899, "referenceAllele": "T", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_017028077.2:c.194T>C" ], "proteinEffect": { "hgvs": "XP_016883566.1:p.Ile65Thr", "hgvsWellDefined": "XP_016883566.1:p.Ile65Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS577905" }, { "coordinates": [ { "allele": "C", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_017028078.2:c.194T>C" ], "proteinEffect": { "hgvs": "XP_016883567.1:p.Ile65Thr", "hgvsWellDefined": "XP_016883567.1:p.Ile65Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS577906" }, { "coordinates": [ { "allele": "C", "end": 826, "referenceAllele": "T", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_017028079.2:c.194T>C" ], "proteinEffect": { "hgvs": "XP_016883568.1:p.Ile65Thr", "hgvsWellDefined": "XP_016883568.1:p.Ile65Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS577907" }, { "coordinates": [ { "allele": "C", "end": 813, "referenceAllele": "T", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_024452002.1:c.194T>C" ], "proteinEffect": { "hgvs": "XP_024307770.1:p.Ile65Thr", "hgvsWellDefined": "XP_024307770.1:p.Ile65Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS585509" }, { "coordinates": [ { "allele": "C", "end": 2290, "referenceAllele": "T", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XR_002958533.1:n.2290T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS604658" }, { "@id": "http://reg.genome.network/allele/PA2827244390", "coordinates": [ { "allele": "C", "end": 1384, "referenceAllele": "T", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001324191.2:c.629T>C" ], "proteinEffect": { "hgvs": "NP_001311120.1:p.Ile210Thr", "hgvsWellDefined": "NP_001311120.1:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS686244" }, { "@id": "http://reg.genome.network/allele/PA2741861427", "coordinates": [ { "allele": "C", "end": 848, "referenceAllele": "T", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001324193.2:c.194T>C" ], "proteinEffect": { "hgvs": "NP_001311122.1:p.Ile65Thr", "hgvsWellDefined": "NP_001311122.1:p.Ile65Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS686245" }, { "@id": "http://reg.genome.network/allele/PA2830047549", "coordinates": [ { "allele": "C", "end": 998, "referenceAllele": "T", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.6:c.629T>C" ], "proteinEffect": { "hgvs": "NP_079236.3:p.Ile210Thr", "hgvsWellDefined": "NP_079236.3:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS698795" }, { "coordinates": [ { "allele": "C", "end": 1073, "referenceAllele": "T", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NR_136715.2:n.1073T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS703943" }, { "@id": "http://reg.genome.network/allele/PA2829112133", "coordinates": [ { "allele": "C", "end": 1216, "referenceAllele": "T", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001386393.1:c.1172T>C" ], "proteinEffect": { "hgvs": "NP_001373322.1:p.Ile391Thr", "hgvsWellDefined": "NP_001373322.1:p.Ile391Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS724500", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000610179.7:c.1172T>C" }, "RefSeq": { "hgvs": "NM_001386393.1:c.1172T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477429.2:p.Ile391Thr" }, "RefSeq": { "hgvs": "NP_001373322.1:p.Ile391Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA102327", "coordinates": [ { "allele": "C", "end": 1680, "referenceAllele": "T", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.4:c.1502T>C" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Ile501Thr", "hgvsWellDefined": "NP_705902.2:p.Ile501Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS729485" }, { "@id": "http://reg.genome.network/allele/PA2830332081", "coordinates": [ { "allele": "C", "end": 991, "referenceAllele": "T", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153640.4:c.629T>C" ], "proteinEffect": { "hgvs": "NP_705904.1:p.Ile210Thr", "hgvsWellDefined": "NP_705904.1:p.Ile210Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS729486" } ], "type": "nucleotide" }