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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.[Asp651_Asn657delinsGluTyrGlySer;Thr659Pro;Arg662_Cys667delinsHisProAlaLysArgSer;Arg669_Thr671del;Ser673_Leu680delinsVal]
CA2695228166
NM_001195798.2:c.1952_1953insG