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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.[Ile395_Gly402delinsMetTrpTrpIleLeu;Tyr405_Gly410delinsAlaSerCysThrGlyLeu;Pro412_Asn421delinsGlyGluLeuProProArgSerArgLys;Val423_Ile425delinsAla]
CA645373234
NM_001195803.2:c.1185del