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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.[Val1165Asp;Leu1167_Thr1170delinsTyrLeuAspAsn;Leu1172_Ser1173insLys;Asn1174_Gln1175delinsIleTrp;Gly1177_Ile1179delinsHisArg;Lys1181Ile;Ile1183_Ser1185delinsPheValLeu;Ala1187del;Leu1189_Cys1195delinsPheGlyTrpTrpSerAlaMet]
CA658822784
ENST00000307340.8:c.3494_3495del