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Canonical Allele Identifier: Get Identifier
Gene: PKLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000376214.3:p.[Leu540_Ser541insAlaTyrProGluThrProLeuProProLeuAlaGlnProThrLeuValProHisProPheLeuPro;Ile542delinsLeuArg;Ser543_Ter544insProAlaHisThr]
CA2648266931
ENST00000392414.7:c.1621del