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Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000355909.3:p.[Gln765_Cys768delinsSerValSerAla;Glu771_Ala772delinsLysPro;Gly774_Asp778delinsAspPheSerVal;Cys780_Arg781delinsProAla;Asn783_Val789delinsLys;Asn791_Ala794delinsPheMetGly]
CA916082144
ENST00000366942.3:c.2293del