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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.[Pro1076_Trp1084delinsValHisLeuIleLeuGlnMetProThrGly;Leu1085dup;Thr1086_Tyr1087insVal;Leu1089_Tyr1097delinsGlyMetValLeuLysSer;Thr1099_Tyr1105delinsGlnGlnArgIleAsnThrHis]
CA915942033
NM_007123.6:c.3224_3225dup