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Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.[Thr3646_Tyr3651delinsSerGlnValSerSerHis;Asn3653_Thr3657delinsProThrThrAlaSer;Thr3659_Phe3672delinsLeuGlnLeuValHisLeuLeuGlyAlaLeuGlnAlaSer;Gly3674_Gln3675delinsPhe]
CA2697554877
NM_206933.3:c.10934_10935dup