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Canonical Allele Identifier: Get Identifier
Gene: PKLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011507942.1:p.[Trp494_Arg495insLeu;Pro496_Ser498delinsLeuHisGlnHisHisAla;Tyr500_Asn502delinsAlaLysHis;Met504Leu;Val506delinsArgProSer;Leu507_Ser508insLeuTrpPro;Ser508_Ile509insLeuProLeuTyrPro;Ser510Pro]
CA1143926
XM_011509640.3:c.1484_1491del