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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[His419_Val421delinsProAla;Ser423_Asp425delinsLeuProMet;Val427_Ile428delinsProSer;Arg430_Ala434delinsAlaGluThrSerArg;Asp436_Asp441delinsProThrGlyTrpLeu;Ile443_His444delinsThrGly;Asn446_Tyr448delinsThrAlaThrSerThr]
CA2695228176
ENST00000535915.5:c.1256del