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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.[Asn594_Arg595del;Thr597_Glu602delinsProSerTrpArgMet;Leu605_Phe609delinsGlyTrpProThrPro;Leu611_Asp616delinsProTrpProSerLeuArgThr;Val618Tyr;Trp620_Asp622delinsGlyGln;Ile624_Glu626delinsSerSerThr]
CA2573050613
NM_001195798.2:c.1782_1788del