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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Trp498_Cys499delinsPro;Arg501_Thr503delinsGlnTrpArg;Ser505_Leu512delinsProValSerValProPro;Leu514del;Pro517Asp;Ile519_Asn520delinsPro;His522_Asp532delinsLeuAlaGlnValTyrLeuArgLeuProGlyArg]
CA10585716
ENST00000455727.6:c.1492_1508del