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Canonical Allele Identifier: Get Identifier
Gene: RPE65 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000262340.5:p.[Tyr501_Leu503del;Leu505_Lys508delinsSerPro;Leu510del;Val513_His527delinsCysGln;Phe530Lys]
CA645525123
ENST00000262340.6:c.1500_1501insA