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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[His796_Tyr806delinsThrPheAlaThrThrArgThrAlaThrAlaThr;Ser808delinsArgAsp;Gln810_Met811delinsTrpSer;Ser813_Leu814delinsTrpArgMetThrTrpArg;Asp816_Ala819delinsHisLeuProGlyVal]
CA10585876
ENST00000535915.5:c.2386del