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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.[Ala391delinsTrpSer;Asp393Trp;Glu395_Asn399delinsArg;Ile401_Tyr402del;Ser404_Met410delinsProAla;Cys412Glu;Gln415Gly;Asp417delinsThrCysPro;Ala419Glu]
CA2573131732
ENST00000560467.2:c.1165_1169dup