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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[His474_Lys479delinsGlnArgArgPro;Val481_Ile484delinsArgLeuTrp;Tyr486_Phe489delinsProSerPro;Asn491_Met498delinsSerSerSerProThrGly;Leu500_Asp501del;Glu504delinsGlyArg]
CA2580096408
ENST00000252444.10:c.1422del