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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.[Leu921delinsCysVal;Val923_Gln927delinsLeuIleValLysGluGlu;Arg929_Cys931delinsValIleSerVal;Cys934_Ser941delinsValPheIlePheLeuGlnAlaMet;Gly943_Asn944delinsLeuAla;Thr946_Gly947del;Leu949_Pro950delinsHis]
CA916082142
NM_007123.5:c.2761del