{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412673244", "communityStandardTitle": [ "NM_004006.3(DMD):c.1731A>C (p.Glu577Asp)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32591728T>G?assembly=hg19", "id": "chrX:g.32591728T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.32573611T>G?assembly=hg38", "id": "chrX:g.32573611T>G" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 32573611, "referenceAllele": "T", "start": 32573610 } ], "hgvs": [ "NC_000023.11:g.32573611T>G", "CM000685.2:g.32573611T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 32591728, "referenceAllele": "T", "start": 32591727 } ], "hgvs": [ "NC_000023.10:g.32591728T>G", "CM000685.1:g.32591728T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "G", "end": 32501649, "referenceAllele": "T", "start": 32501648 } ], "hgvs": [ "NC_000023.9:g.32501649T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "C", "end": 770999, "referenceAllele": "A", "start": 770998 } ], "hgvs": [ "NG_012232.1:g.770999A>C", "LRG_199:g.770999A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2077, "referenceAllele": "A", "start": 2076 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682071.1:c.1362A>C" ], "proteinEffect": { "hgvs": "ENSP00000508133.1:p.Glu454Asp", "hgvsWellDefined": "ENSP00000508133.1:p.Glu454Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS827069" }, { "coordinates": [ { "allele": "C", "end": 1938, "referenceAllele": "A", "start": 1937 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682899.1:n.1938A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827887" }, { "coordinates": [ { "allele": "C", "end": 1765, "referenceAllele": "A", "start": 1764 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682924.1:c.*230A>C" ], "proteinEffect": { "hgvs": "ENSP00000508187.1:n.*230A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS827912" }, { "coordinates": [ { "allele": "C", "end": 1938, "referenceAllele": "A", "start": 1937 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683985.1:n.1938A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828948" }, { "coordinates": [ { "allele": "C", "end": 1938, "referenceAllele": "A", "start": 1937 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684165.1:n.1938A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829123" }, { "coordinates": [ { "allele": "C", "end": 1938, "referenceAllele": "A", "start": 1937 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684292.1:n.1938A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829248" }, { "coordinates": [ { "allele": "C", "end": 2051, "referenceAllele": "A", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000288447.9:c.1707A>C" ], "proteinEffect": { "hgvs": "ENSP00000288447.4:p.Glu569Asp", "hgvsWellDefined": "ENSP00000288447.4:p.Glu569Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS743949" }, { "coordinates": [ { "allele": "C", "end": 1968, "referenceAllele": "A", "start": 1967 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.1731A>C" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu577Asp", "hgvsWellDefined": "ENSP00000354923.3:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.1731A>C" }, "RefSeq": { "hgvs": "NM_004006.3:c.1731A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu577Asp" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu577Asp" } } } }, { "coordinates": [ { "allele": "C", "end": 1883, "referenceAllele": "A", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000288447.8:c.1707A>C" ], "proteinEffect": { "hgvs": "ENSP00000288447.4:p.Glu569Asp", "hgvsWellDefined": "ENSP00000288447.4:p.Glu569Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS253516" }, { "coordinates": [ { "allele": "C", "end": 1938, "referenceAllele": "A", "start": 1937 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.1731A>C" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Glu577Asp", "hgvsWellDefined": "ENSP00000354923.3:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "C", "end": 1914, "referenceAllele": "A", "start": 1913 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.1719A>C" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Glu573Asp", "hgvsWellDefined": "ENSP00000367948.2:p.Glu573Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "C", "end": 93, "endIntronDirection": "-", "endIntronOffset": 208411, "referenceAllele": "A", "start": 93, "startIntronDirection": "-", "startIntronOffset": 208412 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000420596.5:c.94-208412A>C" ], "proteinEffect": { "hgvs": "ENSP00000399897.1:n.94-208412A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS286388" }, { "coordinates": [ { "allele": "C", "end": 375, "referenceAllele": "A", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000447523.1:c.375A>C" ], "proteinEffect": { "hgvs": "ENSP00000395904.1:p.Glu125Asp", "hgvsWellDefined": "ENSP00000395904.1:p.Glu125Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS299280" }, { "coordinates": [ { "allele": "C", "end": 93, "endIntronDirection": "-", "endIntronOffset": 208900, "referenceAllele": "A", "start": 93, "startIntronDirection": "-", "startIntronOffset": 208901 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000448370.5:c.94-208901A>C" ], "proteinEffect": { "hgvs": "ENSP00000388559.1:n.94-208901A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS299700" }, { "coordinates": [ { "allele": "C", "end": 215, "referenceAllele": "A", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000480751.1:n.215A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS320825" }, { "coordinates": [ { "allele": "C", "end": 335, "endIntronDirection": "-", "endIntronOffset": 356547, "referenceAllele": "A", "start": 335, "startIntronDirection": "-", "startIntronOffset": 356548 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000488902.5:n.336-356548A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS327073" }, { "coordinates": [ { "allele": "C", "end": 1719, "referenceAllele": "A", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.1719A>C" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Glu573Asp", "hgvsWellDefined": "ENSP00000479270.1:p.Glu573Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "C", "end": 1731, "referenceAllele": "A", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.1731A>C" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Glu577Asp", "hgvsWellDefined": "ENSP00000478150.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "C", "end": 2051, "referenceAllele": "A", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.1707A>C" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Glu569Asp", "hgvsWellDefined": "NP_000100.2:p.Glu569Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "@id": "http://reg.genome.network/allele/PA285534", "coordinates": [ { "allele": "C", "end": 1975, "referenceAllele": "A", "start": 1974 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.1731A>C", "LRG_199t1:c.1731A>C" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Glu577Asp", "hgvsWellDefined": "NP_003997.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "@id": "http://reg.genome.network/allele/PA2829489680", "coordinates": [ { "allele": "C", "end": 1982, "referenceAllele": "A", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.1719A>C" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Glu573Asp", "hgvsWellDefined": "NP_004000.1:p.Glu573Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "@id": "http://reg.genome.network/allele/PA2829495321", "coordinates": [ { "allele": "C", "end": 2065, "referenceAllele": "A", "start": 2064 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.1362A>C" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Glu454Asp", "hgvsWellDefined": "NP_004001.1:p.Glu454Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Glu577Asp", "hgvsWellDefined": "XP_006724531.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "C", "end": 1810, "referenceAllele": "A", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.1707A>C" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu569Asp", "hgvsWellDefined": "XP_006724532.1:p.Glu569Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu577Asp", "hgvsWellDefined": "XP_006724533.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Glu577Asp", "hgvsWellDefined": "XP_006724534.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "C", "end": 1799, "referenceAllele": "A", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.1602A>C" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Glu534Asp", "hgvsWellDefined": "XP_006724535.1:p.Glu534Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Glu577Asp", "hgvsWellDefined": "XP_006724536.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Glu577Asp", "hgvsWellDefined": "XP_006724537.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Glu577Asp", "hgvsWellDefined": "XP_006724538.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Glu577Asp", "hgvsWellDefined": "XP_011543769.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Glu577Asp", "hgvsWellDefined": "XP_011543770.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545469.1:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_011543771.1:p.Glu577Asp", "hgvsWellDefined": "XP_011543771.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS112369" }, { "coordinates": [ { "allele": "C", "end": 1902, "referenceAllele": "A", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.1707A>C" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Glu569Asp", "hgvsWellDefined": "XP_006724532.1:p.Glu569Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Glu577Asp", "hgvsWellDefined": "XP_006724533.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Glu577Asp", "hgvsWellDefined": "XP_006724537.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Glu577Asp", "hgvsWellDefined": "XP_011543770.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Glu577Asp", "hgvsWellDefined": "XP_016884817.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029329.1:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_016884818.1:p.Glu577Asp", "hgvsWellDefined": "XP_016884818.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS578893" }, { "coordinates": [ { "allele": "C", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029330.2:c.1731A>C" ], "proteinEffect": { "hgvs": "XP_016884819.1:p.Glu577Asp", "hgvsWellDefined": "XP_016884819.1:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS578894" }, { "@id": "http://reg.genome.network/allele/PA2825071416", "coordinates": [ { "allele": "C", "end": 1830, "referenceAllele": "A", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.1707A>C" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Glu569Asp", "hgvsWellDefined": "NP_000100.3:p.Glu569Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "@id": "http://reg.genome.network/allele/PA2573083719", "coordinates": [ { "allele": "C", "end": 1968, "referenceAllele": "A", "start": 1967 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.1731A>C" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Glu577Asp", "hgvsWellDefined": "NP_003997.2:p.Glu577Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.1731A>C" }, "RefSeq": { "hgvs": "NM_004006.3:c.1731A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu577Asp" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu577Asp" } } } } ], "type": "nucleotide" }