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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.[Trp6_Ala13delinsLeuGluIleAlaLeuAspArgArg;Leu15_Ala19delinsAlaProArgArgGly;Thr21_Val23delinsAspCysSer;Asp25del;Cys27_Glu28delinsGlnMet;Asn30_Gln35delinsLysLysArgValProValPro]
CA2497030074
NM_001195800.2:c.16dup