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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.[Thr798_Arg805delinsArgSerTrpValSerGlyLeuGly;Gln807_Asp810delinsSerCysValThrGlu;Cys813_Trp825delinsSerProTyrSerAlaProArgLeuProLeuProGly;Ser827Leu]
CA2582476499
ENST00000557933.5:c.2393del