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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.[Tyr1087_Asp1092delinsPheThrValTyrSer;Phe1094_Thr1098delinsMetValLeuLysSer;Glu1100_Asp1101delinsGln;Tyr1103_Tyr1109delinsArgIleAsnThrHisThrVal;Leu1111_Asp1112delinsAsn;Asp1114_Leu1116delinsSer]
CA1012223617
NM_007123.6:c.3258_3259dup