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Canonical Allele Identifier: Get Identifier
Gene: RNPEPL1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000403319.1:p.[Glu42Asp;Asp44_Gln47delinsAlaArgGly;Ser49_Arg53delinsProPhe;Val55_Glu56del;Leu58_Trp62delinsValAspArgArg;Ala64_Glu65delinsSerGly;Leu67_Ala72delinsGly;Ala74_Lys81delinsCysLeuGlyGlnArgHis]
CA1044050489
ENST00000437406.1:c.126_154del