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Canonical Allele Identifier: Get Identifier
Gene: PKLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.[Gly526delinsAlaThr;Trp527_Arg528insLeu;Pro529_Ser531delinsLeuHisGlnHisHisAla;Tyr533_Asn535delinsAlaLysHis;Met537Leu;Val539_Leu540delinsArgPro;Ile542delinsLeuLeuTrpPro;Ser543_Ter544insLeuProLeu]
CA2525498094
NM_181871.4:c.1575_1579del