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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.[Tyr292_Ile296delinsLeuHisGlnProHis;Asn298_Thr307delinsGlnProGlu;Val309_Asn312delinsArgGly;Ile314_Ser320delinsSerGlyHisGlyGlyGlyGln]
CA1139666269
NM_001195803.2:c.874dup