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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Val625_Leu626delinsCysPro;Ile628_Phe633delinsHisArgAlaProArg;Cys635Pro;Gly637_Phe639delinsProGlyGly;Leu641_Arg646delinsProSerMetGluGlu;Lys648_Asn654delinsAlaAla]
CA2830773967
ENST00000455727.6:c.1872dup