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Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.[Cys1186_Pro1188delinsLeuProLeuTrp;Ala1190_Gln1193delinsValValSerHisValPhe;Cys1195_Thr1203delinsThrLysValMetLysProGlnLeuPro;Ala1205_Thr1206delinsGly;Asn1209_Val1211delinsPheHisLeu;Phe1213_Lys1215delinsSer]
CA344868177
NM_007123.6:c.3557del