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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.[Val397_His401del;Phe403_Tyr405delinsSerCysSer;Thr407_Gly419delinsLeuHisVal;Asn421_Val423del;Ile425_Ser427del]
CA16602332
NM_001195803.2:c.1190_1191del