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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Ser69_Phe73delinsLeuProGly;Cys75_Ser82delinsValSerLeuPro;Gln84_Phe85delinsTrpGlu;Cys87_Asp88delinsHisLeu;Asp90_Cys93delinsAlaValArg;Asp95_Asp98del]
CA10584858
ENST00000535915.5:c.204dup