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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Arg436_Leu437del;His439Gly;Phe441_Ser442delinsProLeu;Ala444_Arg465delinsLeuGlyArgLeu]
CA2580613055
NM_001195800.2:c.1306_1307del