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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Val422del;Ser424_Asp426delinsLeuProMet;Val428_Ile429delinsProSer;Arg431_Ala435delinsAlaGluThrSerArg;Asp437_Asp442delinsProThrGlyTrpLeu;Ile444_His445delinsThrGly;Asn447_Trp450delinsThrAlaThrSer;Thr451_Asp452insGlyPro]
CA2739291177
ENST00000560467.2:c.1264del