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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Ser819_Trp825delinsLeuPro;Ser827_Tyr830del;Arg832_Gly835del;Arg837_Thr838delinsPro;Thr840_Thr843delinsMetGluGlu;Thr845_Pro852delinsAlaAla]
CA2695228328
ENST00000557933.5:c.2456_2468del