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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Cys284_Asn297delinsGlnValGlnValSerGlnArgArg;Ala299_Trp305delinsHisHisProGlyGln;Asp307_Glu312delinsLeuGlnHisGly]
CA645509270
ENST00000559340.2:c.839_848dup