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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.[Val731del;Ser733_Thr734del;Val736_Thr738delinsPro;His740_Arg744del;Val746_Thr760del]
CA10585804
ENST00000557933.5:c.2191del