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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.[Cys243_Asn256delinsGlnValGlnValSerGlnArgArg;Ala258_Trp264delinsHisHisProGlyGln;Asp266_Glu271delinsLeuGlnHisGly]
CA645509270
ENST00000535915.5:c.716_725dup