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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.[Ala514_Arg515insGlyLeuLysTrp;Ala516_Ile520delinsLeuThrSerLeuSerProPheMetAspCysSerLys;Ile522_Val524delinsLeuGluHis;Phe526_Lys532delinsProAlaArgTyrValPheGly]
CA2646149685
NM_000329.3:c.1543del