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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Gly738_Asn739del;Lys741_Val746delinsMetArg;Ala748_Leu749del;Ile751_Leu753del;Ile755del;Leu757_Leu767delinsAla]
CA039842
NM_001195799.2:c.2213del