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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Leu794del;Ile796_Leu800delinsHisArgHis;Leu802_Arg805delinsAla;Gln807_Leu814del;Gln817_Cys818delinsVal;Ser820_Ala824delinsGlyAlaAlaVal]
CA2695228325
ENST00000557933.5:c.2381_2382del