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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.[Thr598_Met599delinsAsnVal;His601_Lys615del;Val619Gly;Ala621_Ile628delinsArgCysTrpGlnArgLys]
CA10585817
NM_001195800.2:c.1793_1794del