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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.[Gln602_Leu604delinsHisGly;Val607_Gly611delinsSerAsp;Glu613_Lys615delinsValSer;Val619Gly;Ala621_Leu631delinsArgCysTrpGlnArgLys]
CA2573156030
NM_001195800.2:c.1778_1805dup