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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.[Thr454Leu;Glu456_Glu469delinsLysLeuGlyPheGlyLysSerLeuIleHisThrHisGlnAsn;Ile471_Asp483delinsSerLeuPheLeuThrGlnMetProTrpLysLysMetMet]
CA2573132571
ENST00000262340.6:c.1360del