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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.[Leu790_Leu794delinsValHisCysPro;Ile796_Leu800delinsHisArgHisGlyAla;Leu802_Trp803del;Arg805_Gln807del;Cys809_Arg811delinsValSerGly;Cys813_Ser819delinsAlaVal]
CA2695228324
ENST00000557933.5:c.2368_2369del