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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.[Trp825_Gly826del;Ser828_Tyr830del;Arg832_Thr833del;Gly835del;Arg837_Thr838delinsPro;Thr840_Thr843delinsMetGluGlu;Thr845_Arg854delinsAlaAla]
CA645611974
ENST00000557933.5:c.2472_2473dup