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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Ser49_Ala50insLeuSer;Glu51_Gly55delinsArgMetAlaLeuMet;Asp57_Thr62delinsProArgArgArgAla;Val66_Ser70delinsProAlaAsnPro;Asp72_Phe73delinsThr;Cys75_Gly76delinsAlaVal;Arg78Ala;Val79_Asn80insSer]
CA10584768
ENST00000560467.2:c.148del