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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Glu650_Val653delinsTyrGlySer;Phe655_Thr659delinsPro;Arg662_Cys667delinsHisProAlaLysArgSer;Arg669_Thr671del;Ser673_Leu680delinsVal]
CA2830773965
NM_000527.5:c.1948_1952del