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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Tyr465_Asp466delinsMet;Val468_Ile469delinsProSer;Arg471_Ala475delinsAlaGluThrSerArg;Asp477_Asp482delinsProThrGlyTrpLeu;Ile484_His485delinsThrGly;Asn487_Trp490delinsThrAlaThrSer;Asp492_Val494delinsGlyProThr;Leu495dup]
CA10585436
ENST00000558013.5:c.1392del