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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.[Ile83_Gln92delinsMetAlaSerValLeuGlu;Asp94_Asn97delinsArgTrpProSer;Ser99_Glu101delinsLeuArg;Gly103_Val106delinsArgLeuArgArg;Thr108delinsArgLeuSer;Arg110_Glu113delinsGlyHisLeuSerPro]
CA915951651
ENST00000545707.5:c.249delinsGG