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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.[Leu749_Leu753delinsValHisCysPro;Ile755_Phe760delinsHisArgAlaProArg;Cys762Pro;Gly764_Phe766delinsProGlyGly;Leu768_Arg773delinsProSerMetGluGlu;Lys775_Asn778delinsAlaAla]
CA2695228324
ENST00000535915.5:c.2245_2246del