{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA127867", "communityStandardTitle": [ "NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33217[alleleid]", "alleleId": 33217, "preferredName": "NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18178", "RCV": [ "RCV000019809" ], "variationId": 18178 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.30080705G>A?assembly=hg19", "id": "chr16:g.30080705G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.30069384G>A?assembly=hg38", "id": "chr16:g.30069384G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121909534", "rs": 121909534 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-30069384-G-A?dataset=gnomad_r4", "id": "16-30069384-G-A", "variant": "16:30069384 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 30069384, "referenceAllele": "G", "start": 30069383 } ], "hgvs": [ "NC_000016.10:g.30069384G>A", "CM000678.2:g.30069384G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 30080705, "referenceAllele": "G", "start": 30080704 } ], "hgvs": [ "NC_000016.9:g.30080705G>A", "CM000678.1:g.30080705G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 29988206, "referenceAllele": "G", "start": 29988205 } ], "hgvs": [ "NC_000016.8:g.29988206G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 21215, "referenceAllele": "G", "start": 21214 } ], "hgvs": [ "NG_008010.1:g.21215G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000770" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1645, "referenceAllele": "G", "start": 1644 } ], "hgvs": [ "ENST00000338110.11:c.*1128G>A" ], "proteinEffect": { "hgvs": "ENSP00000336927.6:n.*1128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS823973" }, { "coordinates": [ { "allele": "A", "end": 1706, "referenceAllele": "G", "start": 1705 } ], "hgvs": [ "ENST00000338110.10:c.*1128G>A" ], "proteinEffect": { "hgvs": "ENSP00000336927.6:n.*1128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS747711" }, { "coordinates": [ { "allele": "A", "end": 1763, "referenceAllele": "G", "start": 1762 } ], "hgvs": [ "ENST00000395248.6:c.*801G>A" ], "proteinEffect": { "hgvs": "ENSP00000378669.2:n.*801G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS753374" }, { "coordinates": [ { "allele": "A", "end": 1771, "referenceAllele": "G", "start": 1770 } ], "hgvs": [ "ENST00000566897.6:c.*1128G>A" ], "proteinEffect": { "hgvs": "ENSP00000455724.2:n.*1128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS760507" }, { "coordinates": [ { "allele": "A", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000642816.3:c.781G>A" ], "proteinEffect": { "hgvs": "ENSP00000496166.1:p.Glu261Lys", "hgvsWellDefined": "ENSP00000496166.1:p.Glu261Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS766940", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642816.3:c.781G>A" }, "RefSeq": { "hgvs": "NM_001243177.4:c.781G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496166.1:p.Glu261Lys" }, "RefSeq": { "hgvs": "NP_001230106.1:p.Glu261Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000643777.4:c.619G>A" ], "proteinEffect": { "hgvs": "ENSP00000494188.2:p.Glu207Lys", "hgvsWellDefined": "ENSP00000494188.2:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS767466" }, { "coordinates": [ { "allele": "A", "end": 1706, "referenceAllele": "G", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000338110.9:c.619G>A" ], "proteinEffect": { "hgvs": "ENSP00000336927.5:p.Glu207Lys", "hgvsWellDefined": "ENSP00000336927.5:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS260586" }, { "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "G", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000395240.7:c.631G>A" ], "proteinEffect": { "hgvs": "ENSP00000378661.3:p.Glu211Lys", "hgvsWellDefined": "ENSP00000378661.3:p.Glu211Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS276586" }, { "coordinates": [ { "allele": "A", "end": 1763, "referenceAllele": "G", "start": 1762 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000395248.5:c.781G>A" ], "proteinEffect": { "hgvs": "ENSP00000378669.1:p.Glu261Lys", "hgvsWellDefined": "ENSP00000378669.1:p.Glu261Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS276592" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "G", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000412304.6:c.619G>A" ], "proteinEffect": { "hgvs": "ENSP00000400452.2:p.Glu207Lys", "hgvsWellDefined": "ENSP00000400452.2:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS282549" }, { "coordinates": [ { "allele": "A", "end": 852, "referenceAllele": "G", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000562679.5:c.781G>A" ], "proteinEffect": { "hgvs": "ENSP00000455455.1:p.Glu261Lys", "hgvsWellDefined": "ENSP00000455455.1:p.Glu261Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS376939" }, { "coordinates": [ { "allele": "A", "end": 872, "referenceAllele": "G", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000563060.6:c.619G>A" ], "proteinEffect": { "hgvs": "ENSP00000455800.2:p.Glu207Lys", "hgvsWellDefined": "ENSP00000455800.2:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS377173" }, { "coordinates": [ { "allele": "A", "end": 1813, "referenceAllele": "G", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000564521.6:n.1813G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS378143" }, { "coordinates": [ { "allele": "A", "end": 1420, "referenceAllele": "G", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000564546.5:c.619G>A" ], "proteinEffect": { "hgvs": "ENSP00000455917.1:p.Glu207Lys", "hgvsWellDefined": "ENSP00000455917.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS378157" }, { "coordinates": [ { "allele": "A", "end": 988, "referenceAllele": "G", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000564595.6:c.781G>A" ], "proteinEffect": { "hgvs": "ENSP00000457468.2:p.Glu261Lys", "hgvsWellDefined": "ENSP00000457468.2:p.Glu261Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS378194" }, { "coordinates": [ { "allele": "A", "end": 375, "endIntronDirection": "-", "endIntronOffset": 114, "referenceAllele": "G", "start": 375, "startIntronDirection": "-", "startIntronOffset": 115 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000564688.1:c.376-115G>A" ], "proteinEffect": { "hgvs": "ENSP00000457514.1:n.376-115G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS378259" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "G", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000566130.1:n.123G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS379216" }, { "coordinates": [ { "allele": "A", "end": 221, "referenceAllele": "G", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000566146.1:n.221G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS379226" }, { "coordinates": [ { "allele": "A", "end": 1771, "referenceAllele": "G", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000566897.5:c.619G>A" ], "proteinEffect": { "hgvs": "ENSP00000455724.1:p.Glu207Lys", "hgvsWellDefined": "ENSP00000455724.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS379760" }, { "coordinates": [ { "allele": "A", "end": 838, "referenceAllele": "G", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000569545.5:c.619G>A" ], "proteinEffect": { "hgvs": "ENSP00000455700.1:p.Glu207Lys", "hgvsWellDefined": "ENSP00000455700.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS381546" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "G", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000569798.5:c.619G>A" ], "proteinEffect": { "hgvs": "ENSP00000455857.1:p.Glu207Lys", "hgvsWellDefined": "ENSP00000455857.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS381718" }, { "coordinates": [ { "allele": "A", "end": 1718, "referenceAllele": "G", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "ENST00000627059.2:c.631G>A" ], "proteinEffect": { "hgvs": "ENSP00000485952.1:p.Glu211Lys", "hgvsWellDefined": "ENSP00000485952.1:p.Glu211Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS406835" }, { "@id": "http://reg.genome.network/allele/PA091501", "coordinates": [ { "allele": "A", "end": 1706, "referenceAllele": "G", "start": 1705 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "NM_000034.3:c.619G>A" ], "proteinEffect": { "hgvs": "NP_000025.1:p.Glu207Lys", "hgvsWellDefined": "NP_000025.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006099" }, { "@id": "http://reg.genome.network/allele/PA2825646375", "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "G", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "NM_001127617.2:c.619G>A" ], "proteinEffect": { "hgvs": "NP_001121089.1:p.Glu207Lys", "hgvsWellDefined": "NP_001121089.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011652" }, { "@id": "http://reg.genome.network/allele/PA658654791", "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "NM_001243177.1:c.781G>A" ], "proteinEffect": { "hgvs": "NP_001230106.1:p.Glu261Lys", "hgvsWellDefined": "NP_001230106.1:p.Glu261Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS018434" }, { "@id": "http://reg.genome.network/allele/PA2830419657", "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "NM_184041.2:c.619G>A" ], "proteinEffect": { "hgvs": "NP_908930.1:p.Glu207Lys", "hgvsWellDefined": "NP_908930.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS044291" }, { "@id": "http://reg.genome.network/allele/PA2830419886", "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "NM_184043.2:c.619G>A" ], "proteinEffect": { "hgvs": "NP_908932.1:p.Glu207Lys", "hgvsWellDefined": "NP_908932.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS044292" }, { "coordinates": [ { "allele": "A", "end": 1682, "referenceAllele": "G", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "XM_011545767.1:c.619G>A" ], "proteinEffect": { "hgvs": "XP_011544069.1:p.Glu207Lys", "hgvsWellDefined": "XP_011544069.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS112651" }, { "coordinates": [ { "allele": "A", "end": 1278, "referenceAllele": "G", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "XM_011545768.1:c.619G>A" ], "proteinEffect": { "hgvs": "XP_011544070.1:p.Glu207Lys", "hgvsWellDefined": "XP_011544070.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS112652" }, { "@id": "http://reg.genome.network/allele/PA658654791", "coordinates": [ { "allele": "A", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "NM_001243177.2:c.781G>A" ], "proteinEffect": { "hgvs": "NP_001230106.1:p.Glu261Lys", "hgvsWellDefined": "NP_001230106.1:p.Glu261Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511925" }, { "coordinates": [ { "allele": "A", "end": 1706, "referenceAllele": "G", "start": 1705 } ], "hgvs": [ "NM_001365304.1:c.*1128G>A" ], "proteinEffect": { "hgvs": "NP_001352233.1:n.*1128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS524087" }, { "coordinates": [ { "allele": "A", "end": 1808, "referenceAllele": "G", "start": 1807 } ], "hgvs": [ "NM_001365305.1:c.*1128G>A" ], "proteinEffect": { "hgvs": "NP_001352234.1:n.*1128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS524088" }, { "coordinates": [ { "allele": "A", "end": 1952, "referenceAllele": "G", "start": 1951 } ], "hgvs": [ "NM_001365307.1:c.*1128G>A" ], "proteinEffect": { "hgvs": "NP_001352236.1:n.*1128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS524089" }, { "@id": "http://reg.genome.network/allele/PA2830419657", "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "NM_184041.3:c.619G>A" ], "proteinEffect": { "hgvs": "NP_908930.1:p.Glu207Lys", "hgvsWellDefined": "NP_908930.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS526926" }, { "coordinates": [ { "allele": "A", "end": 1729, "referenceAllele": "G", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "XM_024450192.1:c.619G>A" ], "proteinEffect": { "hgvs": "XP_024305960.1:p.Glu207Lys", "hgvsWellDefined": "XP_024305960.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS583733" }, { "coordinates": [ { "allele": "A", "end": 1480, "referenceAllele": "G", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "XM_024450193.1:c.619G>A" ], "proteinEffect": { "hgvs": "XP_024305961.1:p.Glu207Lys", "hgvsWellDefined": "XP_024305961.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS583734" }, { "@id": "http://reg.genome.network/allele/PA658654791", "coordinates": [ { "allele": "A", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "NM_001243177.3:c.781G>A" ], "proteinEffect": { "hgvs": "NP_001230106.1:p.Glu261Lys", "hgvsWellDefined": "NP_001230106.1:p.Glu261Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS680190" }, { "coordinates": [ { "allele": "A", "end": 1891, "referenceAllele": "G", "start": 1890 } ], "hgvs": [ "NM_001365307.2:c.*1128G>A" ], "proteinEffect": { "hgvs": "NP_001352236.1:n.*1128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS690998" }, { "@id": "http://reg.genome.network/allele/PA2830419657", "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "NM_184041.4:c.619G>A" ], "proteinEffect": { "hgvs": "NP_908930.1:p.Glu207Lys", "hgvsWellDefined": "NP_908930.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS701189" }, { "@id": "http://reg.genome.network/allele/PA658654791", "coordinates": [ { "allele": "A", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "NM_001243177.4:c.781G>A" ], "proteinEffect": { "hgvs": "NP_001230106.1:p.Glu261Lys", "hgvsWellDefined": "NP_001230106.1:p.Glu261Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS714449", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642816.3:c.781G>A" }, "RefSeq": { "hgvs": "NM_001243177.4:c.781G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496166.1:p.Glu261Lys" }, "RefSeq": { "hgvs": "NP_001230106.1:p.Glu261Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1645, "referenceAllele": "G", "start": 1644 } ], "hgvs": [ "NM_001365304.2:c.*1128G>A" ], "proteinEffect": { "hgvs": "NP_001352233.1:n.*1128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720905" }, { "coordinates": [ { "allele": "A", "end": 1747, "referenceAllele": "G", "start": 1746 } ], "hgvs": [ "NM_001365305.2:c.*1128G>A" ], "proteinEffect": { "hgvs": "NP_001352234.1:n.*1128G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720906" }, { "@id": "http://reg.genome.network/allele/PA2830419657", "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN000414", "geneNCBI_id": 226, "geneSymbol": "ALDOA", "hgvs": [ "NM_184041.5:c.619G>A" ], "proteinEffect": { "hgvs": "NP_908930.1:p.Glu207Lys", "hgvsWellDefined": "NP_908930.1:p.Glu207Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS729842" } ], "type": "nucleotide" }