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Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.[Ser1299_Gly1301delinsLys;Ser1304_His1306delinsAlaGlnSer;Val1309_Thr1325delinsIleCysArg;Thr1327del;Leu1329Gln]
CA2586968485
NM_007123.6:c.3896_3897del