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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[His76_Ser82delinsArgArgValSerLeuPro;Gln84_Phe85delinsTrpGlu;Cys87_Cys93delinsHis;Asp95_Gly96del;Asp98_Glu99del;Ser101_Val104delinsValArg]
CA2580096410
NM_001195799.2:c.211_226dup