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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Ala391_Lys393delinsPro;Val395_Ile398delinsArgLeuTrp;Tyr400_Phe403delinsProSerPro;Asn405_Met412delinsSerSerSerProThrGly;Leu414_Asp415del;Glu418_Thr420delinsGlyArg]
CA2497030057
ENST00000557933.5:c.1171del