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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.[Val752_Leu753delinsCysPro;Ile755_Phe760delinsHisArgAlaProArg;Cys762Pro;Gly764_Phe766delinsProGlyGly;Leu768_Arg773delinsProSerMetGluGlu;Lys775_Asn781delinsAlaAla]
CA2830773967
ENST00000535915.5:c.2253dup