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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.[Ser488_Ser492delinsGlyGlyGlu;Gly494_Gln497delinsArgSerArgThr;Pro499del;Tyr501Cys;Leu503_Lys508delinsSerPro;Leu510del;Val513_Val518delinsCysGlnGlyLeuLys]
CA2533791451
NM_000329.3:c.1462_1466del