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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Pro84_Gln92delinsLeuHisSerSerValLeuGlu;Asp94_Asn97delinsArgTrpProSer;Ser99_Glu101delinsLeuArg;Gly103_Cys109delinsArgLeuArgArgAlaArgLeu;Ser110_Gln111insPro;Glu113delinsValLeuProGlyArg]
CA16602295
ENST00000559340.2:c.244_250dup