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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Leu790_Leu794delinsValHisCysPro;Ile796_Phe801delinsHisArgAlaProArg;Cys803Pro;Gly805_Phe807delinsProGlyGly;Leu809_Arg814delinsProSerMetGluGlu;Lys816_Asn819delinsAlaAla]
CA2695228324
ENST00000558013.5:c.2368_2369del