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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.[Val524_His528del;Phe530_Tyr532delinsSerCysSer;Thr534_Gly546delinsLeuHisVal;Asn548_Val550del;Ile552_Ser554del]
CA16602332
NM_001195798.2:c.1571_1572del