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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.[Gln592_Leu594delinsHisGly;Val597_Gly601delinsSerAsp;Glu603_Lys605delinsValSer;Val609Gly;Ala611_Leu621delinsArgCysTrpGlnArgLys]
CA2573156030
NM_001195803.2:c.1748_1775dup