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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.[Gln814_Lys818delinsSerAlaSerAlaSer;Asn820_Glu822delinsMetLeuLys;Arg824_Cys826delinsAspSerAlaIle;Lys828_Leu830delinsValTrpArg;Gly832_Phe834delinsThrSerThr;Leu836_Asn840delinsGlyLysIleIleLeu;Phe842_Leu843del]
CA731431711
ENST00000366942.3:c.2439del