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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Arg126_Val141delinsValThr;Cys143_Val144del;Val146Met;Leu148_Cys157delinsAlaArgThr]
CA2573050586
NM_001195803.2:c.375_381del