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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Phe32_Trp44delinsArgValProValProArgArgGluMetHisLeuLeuGln;Cys46_Asp47del;Ser49_Cys52delinsLeuArgTrp;Asp54_Gln60delinsArg]
CA2695238680
ENST00000558518.6:c.89_92dup