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Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000305941.3:p.[Pro4637_Pro4638delinsLeu;Leu4640_Phe4649delinsIleTrpArgTyrLysTrpLeu;Pro4651_Val4653delinsGluAspSer;Ser4654_Leu4655insGln;Leu4655_Leu4656insPhe;Trp4657_Thr4658delinsPheCys;Pro4660_Gly4665delinsGlnAspArgCysSerGlnMetGlu]
CA423426480
ENST00000307340.8:c.13910del