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Canonical Allele Identifier: Get Identifier
Gene: RPE65 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016857516.1:p.[Lys357_Glu364delinsPheGlyLysSerLeuIleHis;Trp366_Trp368delinsHis;Glu370Asn;Asp372del;Tyr374_His383delinsLeuPheLeuThrGlnMet;Asp385_Gly392delinsTrpLysLysMetMet;Leu395_Val397del]
CA523749680
XM_017002027.1:c.1069_1099del