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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Glu314_Ala318del;Ala320_Phe327del;Cys329_Asp331del;Asn333_Cys334delinsGln;His336_Arg343del]
CA2695238671
ENST00000252444.10:c.922_940dup