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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Ser142Arg;Cys143_Pro144insSer;Leu146_Pro150delinsValProProAlaSerSer;Ser152_Asn156delinsThrAlaProProAla;Ser158_Thr159delinsProSer;Ile161Gly;Gln163_Trp165del;Cys167_Asp170delinsThrThrThr;Asp172_Cys173delinsThrAla]
CA10584915
NM_001195798.2:c.424_430del