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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Gln92_Glu101delinsLysTrpThrAlaThrThrAla;Gly103_Leu105del;Leu107_Asn112delinsSer;Phe114_Cys121delinsAlaVal]
CA1139666289
ENST00000455727.6:c.274del