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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.[Cys913_Ile916delinsLeuThrGlnSerValAla;Gly918_Gln919delinsAlaCysVal;Cys922Ile;Pro924_Cys931delinsLysGluGluGlyValIleSerVal;Cys934_Gly937delinsValPheIle;Tyr939_Pro942delinsLeuGln]
CA2573132755
NM_007123.6:c.2738del