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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.[Ser325_Val326del;Gly328_Val330del;Val332Trp;Asp334_Thr342delinsLeuSerLeu;Phe344del;Glu346_Lys350delinsIle;Ile354del]
CA16602330
NM_001195800.2:c.974del