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Canonical Allele Identifier: Get Identifier
Gene: RPE65 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.[Lys449_Glu456delinsPheGlyLysSerLeuIleHis;Trp458_Trp460delinsHis;Glu462Asn;Asp464del;Tyr466_His475delinsLeuPheLeuThrGlnMet;Asp477_Gly484delinsTrpLysLysMetMet;Leu487_Val489del]
CA523749680
NM_000329.3:c.1345_1375del