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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.[Pro493_Gln497delinsGlnGluGlnAsp;Pro499_Tyr501delinsSer;Leu505_Leu510del;Glu512_Ile522del]
CA2646149703
ENST00000262340.6:c.1478del