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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.[Gln898_Thr907delinsValSerValIleProTrpGlyHisTyr;Pro909del;Thr911_Ile916delinsProPheValThrGln;Gly918_Leu921delinsValAlaSerAla;Pro924_Arg929delinsCysLeuIleValLysGlu]
CA2650512848
NM_007123.5:c.2691_2697del