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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Met484_Val485delinsGlySer;Phe487_Thr491delinsPro;Arg494_Glu500delinsHisProAlaLys;Thr502_Leu504del;Asn506_Tyr511delinsGlu;Cys513Val]
CA9204951
ENST00000455727.6:c.1450_1451del