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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Lys390_Lys393delinsArgPro;Val395_Ile398delinsArgLeuTrp;Tyr400_Phe403delinsProSerPro;Asn405_Met412delinsSerSerSerProThrGly;Leu414_Asp415del;Glu418_Tyr419delinsGlyArg]
CA2017999290
ENST00000558013.5:c.1169del
CA2573155735
ENST00000558013.5:c.1167del