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Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.5:p.[Gly723_Leu724insGln;Arg725_Lys734delinsGlyValIleIleAlaIleLeuAspLeuAsn;Leu736_Glu745delinsSerGluAlaLeuMetMetLeuAspValSer;Cys747_Gly753delinsAlaSerValThrSerMetAla]
CA2747735800
NM_007123.5:c.2170_2171insAG