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Canonical Allele Identifier: Get Identifier
Gene: RPE65 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016857516.1:p.[Thr362Leu;Glu364_Glu377delinsLysLeuGlyPheGlyLysSerLeuIleHisThrHisGlnAsn;Ile379_Asp391delinsSerLeuPheLeuThrGlnMetProTrpLysLysMetMet]
CA2573132571
XM_017002027.1:c.1084del