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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Gly732_Val734del;Gly736_Asn739delinsThrLeuLeuAla;Lys741_Val746delinsGluMetArg;Ala748_Leu749del;Ile751_Leu753del;Ile755del;Leu757_Leu761delinsAla]
CA10585826
ENST00000535915.5:c.2195del