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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Met484_Asn489delinsIleGlySer;Thr491Pro;Arg494_Glu500delinsHisProAlaLys;Thr502_Leu504del;Asn506_Tyr511delinsGlu;Cys513Val]
CA2580096613
NM_001195800.2:c.1451dup