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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.[Glu482_Pro493del;Gly495_Asn497delinsIle;Cys499_Arg501delinsPheSerSer;Leu504del;Asn506_Tyr511delinsProSerGlnGluGlu]
CA2695228164
ENST00000455727.6:c.1444del