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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[His659_Tyr669delinsThrPheAlaThrThrArgThrAlaThrAlaThr;Ser671delinsArgAsp;Gln673_Met674delinsTrpSer;Ser676_Leu677delinsTrpArgMetThrTrpArg;Asp679_Ala682delinsHisLeuProGlyVal]
CA10585876
ENST00000545707.5:c.1975del