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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Lys263_Lys266delinsArgPro;Val268_Ile271delinsArgLeuTrp;Tyr273_Phe276delinsProSerPro;Asn278_Met285delinsSerSerSerProThrGly;Leu287_Asp288del;Glu291_Tyr292delinsGlyArg]
CA2017999290
ENST00000545707.5:c.788del
CA2573155735
ENST00000545707.5:c.786del