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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.[Asn467_Arg468del;Thr470_Glu475delinsProSerTrpArgMet;Leu478_Phe482delinsGlyTrpProThrPro;Leu484_Asp489delinsProTrpProSerLeuArgThr;Val491Tyr;Trp493_Asp495delinsGlyGln;Ile497_Glu499delinsSerSerThr]
CA2573050613
NM_001195803.2:c.1401_1407del