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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Ala151_Asn156delinsProValValProProAla;Ser158_Thr159insAla;Cys160_Ile161delinsAlaPro;Gln163_Ala166delinsAlaSerProSer;Asp168_Trp180delinsGlyProAlaThrThrThrProThrAlaLysMetAlaArgMetSer]
CA658653700
ENST00000558518.6:c.440_450dup