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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.[Asp462del;Asn464_Gly465delinsSerThr;Asn467_Glu475delinsAlaThrGlyArgProSerTrpArgMet;Leu478_Phe482delinsGlyTrpProThrPro;Leu484_Asp489delinsProTrpProSerLeuArgThr;Val491Tyr]
CA10585605
NM_001195803.2:c.1385del