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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.[Asn477_Ser480delinsLysProThrVal;Glu482_Asn489delinsArgGlyTyrGlySer;Thr491Pro;Arg494_Cys499delinsHisProAlaLysArgSer;Arg501_Thr503del;Ser505_Asn506delinsVal]
CA10585684
NM_001195800.2:c.1430dup