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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Asp36Glu;Lys38_Ile40delinsAsnAlaSerProThr;Tyr42_Gly48delinsGlySerAlaMetAlaAlaLeu;Glu51_Gly55delinsArgMetAlaLeuMet;Asp57_Thr62delinsProArgArgArgAla;Ser65_Val66del]
CA10584757
ENST00000560467.2:c.108del