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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Leu385del;Asn387_Ala390delinsGlyThrTrpSer;Asp392Trp;Glu394_Arg399delinsArgArgTrpProAla;Tyr401_Asp404delinsGluSerThrGly;Ser406_Ile410delinsThr;Ser412_Gln414delinsProArgGlu]
CA2497030034
NM_001195799.2:c.1154del