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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.[His527_Gly528delinsMetAspCysSerLysAsn;Leu529_Phe530insGluHisThrProAlaArgTyrVal;Phe530_Lys531insGlySer;Lys531_Lys532insThrGlu;Lys532_Ser533insIle;Ser533_Ter534insPheArgSerAlaIle]
CA902127
NM_000329.3:c.1578del