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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.[Val356_His360del;Phe362_Tyr364delinsSerCysSer;Thr366_Gly378delinsLeuHisVal;Asn380_Val382del;Ile384_Ser386del]
CA16602332
NM_001195800.2:c.1067_1068del