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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.[Cys39_Trp44delinsMetHisLeuLeuGln;Cys46_Asp47del;Ser49_Cys52delinsLeuArgTrp;Asp54_Cys68delinsArg]
CA10584758
ENST00000559340.2:c.114dup