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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.[Ser1066_Leu1072delinsLysPhePheCysTyrGln;Trp1074_Asp1078delinsLeuLeuGlu;Pro1080_Leu1085del;Tyr1087_Glu1095del]
CA2580062125
NM_007123.5:c.3196dup