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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Pro248Gln;Trp251_Asp256delinsHisLeuHisPro;Asp258_Asp261delinsAlaVal;Ser263_Trp266delinsLeuArgGlnArg;Gln268_Cys270delinsArgLeuArg;Gly272Trp;Tyr274_Gln277delinsGly]
CA10584935
ENST00000252444.10:c.724_742dup