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Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501296.1:p.[Gln4643_Val4653delinsThrAsnGlySerArgArgIleProAlaAsnCysPhe;Leu4655_Trp4657delinsPheValAspArg;Gly4659_Lys4666delinsAlaAlaAlaLysTrpLysSerPhe;Tyr4669_Leu4672delinsArgIle]
CA2586968121
ENST00000674083.1:c.13926dup