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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.[Gln163_Trp165delinsThr;Cys167_Asp170delinsProProAlaSer;Asp172_Asp175delinsAlaVal;Ser177_Trp180delinsLeuArgGlnArg;Gln182_Cys184delinsArgLeuArg;Gly186Trp;Tyr188_Gln191delinsGly]
CA2573050574
NM_001195798.2:c.485_486insAACAGCTCCACCTGCATCC