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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Ala577_Thr578delinsPro;Gly580del;Thr582_Met589delinsGly;His591_Gly599delinsProArgTrp;Gly601_Pro606del]
CA645509296
NM_001195803.2:c.1729del