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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.[Asn604_Ser607delinsLysProThrVal;Glu609_Asn616delinsArgGlyTyrGlySer;Thr618Pro;Arg621_Cys626delinsHisProAlaLysArgSer;Arg628_Thr630del;Ser632_Asn633delinsVal]
CA10585684
NM_001195799.2:c.1811dup