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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.[Val548del;Ser550_Asp552delinsLeuProMet;Val554_Ile555delinsProSer;Arg557_Ala561delinsAlaGluThrSerArg;Asp563_Asp568delinsProThrGlyTrpLeu;Ile570_His571delinsThrGly;Asn573_Trp576delinsThrAlaThrSer;Thr577_Asp578insGlyPro]
CA2739291177
ENST00000252444.10:c.1642del