This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PKLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000339933.4:p.[Trp558_Arg559insLeu;Pro560_Ser562delinsLeuHisGlnHisHisAla;Tyr564_Asn566delinsAlaLysHis;Met568Leu;Val570delinsArgProSer;Leu571_Ser572insLeuTrpPro;Ser572_Ile573insLeuProLeuTyrPro;Ser574Pro]
CA1143926
ENST00000342741.6:c.1676_1683del