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Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.5:p.[Leu830_Cys844delinsValGlyCysValTrpArgGluThrSerThrTyrGlyLysIleIle;Pro846_Asn848delinsSerSerVal;Asp850_Lys851delinsLeuAla;Gly853_Asn856delinsValIleArgLeu;Ser858_Leu859delinsGln]
CA2747735792
NM_007123.5:c.2487_2488insGTTGGGTGTGT