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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Ser493_Val494del;Gly496_Val498del;Val500Trp;Asp502_Thr510delinsLeuSerLeu;Phe512del;Glu514_Lys518delinsIle;Ile522del]
CA16602330
NM_001195798.2:c.1478del